ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Conflicting interpretations of pathogenicity
Pathogenic(2); Uncertain significance(1)
- Review status:
- criteria provided, conflicting interpretations
- Submissions:
- 26
- First in ClinVar:
- Oct 11, 2015
- Most recent Submission:
- Nov 20, 2023
- Last evaluated:
- May 21, 2020
- Accession:
- VCV000073058.21
- Variation ID:
- 73058
- Description:
- single nucleotide variant
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NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
- Allele ID
- 83949
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 1p13.2
- Genomic location
- 1: 114713909 (GRCh38) GRCh38 UCSC
- 1: 115256530 (GRCh37) GRCh37 UCSC
- 1: 115058053 (NCBI36) NCBI36 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNM_002524.5:c.181C>A MANE Select NP_002515.1:p.Gln61Lys missense NC_000001.11:g.114713909G>T NC_000001.10:g.115256530G>T NG_007572.1:g.7986C>A LRG_92:g.7986C>A P01111:p.Gln61Lys - Protein change
- Q61K
- Other names
- -
- Canonical SPDI
- NC_000001.11:114713908:G:T
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- Trans-Omics for Precision Medicine (TOPMed) 0.00000
- Links
- ClinGen: CA151263
- UniProtKB: P01111#VAR_006846
- OMIM: 164790.0008
- dbSNP: rs121913254
- VarSome
Help
Aggregate interpretations per condition
Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|---|
Pathogenic | 2 | criteria provided, single submitter | May 21, 2020 | RCV000114746.8 | |
Pathogenic | 1 | no assertion criteria provided | Sep 1, 2013 | RCV000144964.5 | |
not provided | 1 | no assertion provided | Mar 10, 2016 | RCV000423656.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000444882.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000418269.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000418907.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000431313.3 | |
Pathogenic | 1 | no assertion criteria provided | Oct 2, 2014 | RCV000434388.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000435041.3 | |
Pathogenic | 1 | no assertion criteria provided | Oct 2, 2014 | RCV000425440.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000426976.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000428264.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000428499.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000436588.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000423012.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000441559.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000433274.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000436806.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000443974.3 | |
Likely pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000441348.3 | |
Pathogenic | 1 | no assertion criteria provided | May 31, 2016 | RCV000444538.3 | |
drug response | 1 | no assertion criteria provided | Nov 27, 2017 | RCV000626456.3 | |
Vascular Tumors Including Pyogenic Granuloma
|
Likely pathogenic | 1 | no assertion criteria provided | Feb 19, 2015 | RCV000662267.3 |
Uncertain significance | 1 | criteria provided, single submitter | Jan 29, 2018 | RCV000696329.3 | |
Pathogenic | 1 | criteria provided, single submitter | Sep 1, 2018 | RCV001092890.14 |
Submitted interpretations and evidence
HelpInterpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
---|---|---|---|---|---|
Uncertain significance
(Jan 29, 2018)
|
criteria provided, single submitter
Method: curation
|
Affected status: unknown
Allele origin:
unknown
|
Invitae
Accession: SCV000824885.2
First in ClinVar: Oct 10, 2018 Last updated: Oct 10, 2018 |
Comment:
This sequence change replaces glutamine with lysine at codon 61 of the NRAS protein (p.Gln61Lys). The glutamine residue is highly conserved and there is a … (more)
This sequence change replaces glutamine with lysine at codon 61 of the NRAS protein (p.Gln61Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). While this variant has been published in the literature (PMID: 23392294), it has not been reported in the germline of an individual with NRAS-related disease. ClinVar contains an entry for this variant (Variation ID: 73058). This variant has been reported as a recurrent variant in melanoma tumors (PMID: 23392294), colorectal tumors (PMID: 27050078, 23400451), thyroid tumors (PMID: 28780248), squamous cell lung tumors (PMID: 25348872), neuroblastoma tumors (PMID: 26821351), and gynecological tumors (PMID: 24671188). Experimental studies have shown that this missense change p.Gln61Lys, results in cytoskeletal changes in melanocyte cell lines, reduces apoptosis, and results in hyperpigmented skin in transgenic mice who develop cutaneous metastasizing melanoma (PMID: 22718121, 18668139, 15899789). However, in a thyroid epithelial cell line, this variant alone resulted in zero tumor instances (PMID: 10821536). In zebrafish, expression of human NRAS p.Q61K in melanocytes results in the growth of pigmented lesions that rarely progress to melanoma. (PMID: 24148783). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
Pathogenic
(May 21, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002769261.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
A heterozygous missense variant was identified, NM_002524.3(NRAS):c.181C>A in exon 3 of the NRAS gene. This substitution is predicted to create a minor amino acid change … (more)
A heterozygous missense variant was identified, NM_002524.3(NRAS):c.181C>A in exon 3 of the NRAS gene. This substitution is predicted to create a minor amino acid change from a glutamine to a lysine at position 61 of the protein; NP_002515.1(NRAS):p.(Gln61Lys). The glutamine at this position has very high conservation (100 vertebrates, UCSC), and is located within the switch II region (Cirstea, I. C. et al. (2010)). In silico software predicts this variant to be damaging (PolyPhen2, PROVEAN, MutationAssessor, FATHMM). The variant is not present in the gnomAD population database. This variant has been previously reported as pathogenic in multiple patients with congenital melanocytic naevi (ClinVar, Kinsler, V. A. et al. (2013)). In addition, functional studies show that this variant causes melanocyte survival and growth in the epidermis (Li, A. et al. (2012)). Different variants in the same codon resulting in changes to histidine, leucine, arginine, proline and glutamic acid, have also been reported as pathogenic (ClinVar). Based on information available at the time of curation, this variant has been classified as PATHOGENIC. (less)
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Pathogenic
(Sep 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249621.17
First in ClinVar: May 12, 2020 Last updated: Nov 20, 2023 |
Number of individuals with the variant: 1
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503651.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Pathogenic
(Oct 02, 2014)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503649.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503650.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503653.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Pathogenic
(Oct 02, 2014)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503654.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503652.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503655.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503657.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503656.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503664.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503658.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503659.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503660.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503665.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503666.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Pathogenic
(Sep 01, 2013)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000148629.3
First in ClinVar: Apr 19, 2014 Last updated: Oct 11, 2015 |
Comment on evidence:
Dessars et al. (2009) identified a somatic gln61-to-lys (Q61K) mutation in the NRAS gene in 14 of 27 congenital melanocytic nevi (137550). In affected skin … (more)
Dessars et al. (2009) identified a somatic gln61-to-lys (Q61K) mutation in the NRAS gene in 14 of 27 congenital melanocytic nevi (137550). In affected skin samples from 8 of 13 patients with congenital melanocytic nevus syndrome (CMNS; 137550), including 4 with neurocutaneous melanosis (NCMS; 249400), Kinsler et al. (2013) identified a somatic heterozygous c.181C-A transversion in the NRAS gene, resulting in a gln61-to-lys (Q61K) substitution in the guanosine triphosphate-binding domain. The mutation was predicted to result in constitutive activation of NRAS. Neurologic samples from 5 patients from whom tissue was available were positive for a somatic Q61K mutation, and the same mutation was present in both neurologic and skin samples when available. Kinsler et al. (2013) concluded that multiple congenital melanocytic nevi and neuromelanosis, as well as associated nonmelanocytic CNS lesions, result from somatic mosaicism, and that the mutation probably occurs in a progenitor cell in the developing neural crest or neuroectoderm. The findings also suggested that the mutation may be lethal in the germline. (less)
|
|
Pathogenic
(Sep 01, 2013)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000191991.2
First in ClinVar: Nov 22, 2014 Last updated: Oct 11, 2015 |
Comment on evidence:
Dessars et al. (2009) identified a somatic gln61-to-lys (Q61K) mutation in the NRAS gene in 14 of 27 congenital melanocytic nevi (137550). In affected skin … (more)
Dessars et al. (2009) identified a somatic gln61-to-lys (Q61K) mutation in the NRAS gene in 14 of 27 congenital melanocytic nevi (137550). In affected skin samples from 8 of 13 patients with congenital melanocytic nevus syndrome (CMNS; 137550), including 4 with neurocutaneous melanosis (NCMS; 249400), Kinsler et al. (2013) identified a somatic heterozygous c.181C-A transversion in the NRAS gene, resulting in a gln61-to-lys (Q61K) substitution in the guanosine triphosphate-binding domain. The mutation was predicted to result in constitutive activation of NRAS. Neurologic samples from 5 patients from whom tissue was available were positive for a somatic Q61K mutation, and the same mutation was present in both neurologic and skin samples when available. Kinsler et al. (2013) concluded that multiple congenital melanocytic nevi and neuromelanosis, as well as associated nonmelanocytic CNS lesions, result from somatic mosaicism, and that the mutation probably occurs in a progenitor cell in the developing neural crest or neuroectoderm. The findings also suggested that the mutation may be lethal in the germline. (less)
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|
Likely pathogenic
(Feb 19, 2015)
|
no assertion criteria provided
Method: literature only
|
Affected status: yes
Allele origin:
somatic
|
Yale Center for Mendelian Genomics, Yale University
Accession: SCV000784595.1
First in ClinVar: Jul 14, 2018 Last updated: Jul 14, 2018 |
Zygosity: 1 Single Heterozygote
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503661.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503667.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
Likely pathogenic
(May 31, 2016)
|
no assertion criteria provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503663.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
|
drug response
Likely response to RAS inhibitors.
(Nov 27, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Drug used for
Cancer
Affected status: yes
Allele origin:
somatic
|
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust
Accession: SCV000734846.1
First in ClinVar: May 06, 2018 Last updated: May 06, 2018 |
Method: PCR-Free library Preparation on germline and tumour. Data analyzed after Tumour-Normal Substraction.
|
|
not provided
(Mar 10, 2016)
|
no assertion provided
Method: literature only
|
(Somatic mutation)
Affected status: yes
Allele origin:
somatic
|
Database of Curated Mutations (DoCM)
Accession: SCV000503662.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
|
Functional evidence
HelpThere is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Invasive follicular variant of papillary thyroid cancer harboring the NRAS mutation Q61K and presenting with bone metastasis-A case report. | Mehrzad R | International journal of surgery case reports | 2017 | PMID: 28780248 |
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. | Nykamp K | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28492532 |
Mutation profiling in chinese patients with metastatic colorectal cancer and its correlation with clinicopathological features and anti-EGFR treatment response. | Li ZZ | Oncotarget | 2016 | PMID: 27050078 |
Targeting the mTOR Complex by Everolimus in NRAS Mutant Neuroblastoma. | Kiessling MK | PloS one | 2016 | PMID: 26821351 |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. | Chang MT | Nature biotechnology | 2016 | PMID: 26619011 |
Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. | Lim YH | The Journal of investigative dermatology | 2015 | PMID: 25695684 |
Prospective genetic profiling of squamous cell lung cancer and adenosquamous carcinoma in Japanese patients by multitarget assays. | Kenmotsu H | BMC cancer | 2014 | PMID: 25348872 |
Designing a high-throughput somatic mutation profiling panel specifically for gynaecological cancers. | Spaans VM | PloS one | 2014 | PMID: 24671188 |
The genetic heterogeneity and mutational burden of engineered melanomas in zebrafish models. | Yen J | Genome biology | 2013 | PMID: 24148783 |
Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. | Morris EJ | Cancer discovery | 2013 | PMID: 23614898 |
Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. | Trunzer K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2013 | PMID: 23569304 |
Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. | Haarberg HE | Molecular cancer therapeutics | 2013 | PMID: 23538902 |
Characteristics of lung cancers harboring NRAS mutations. | Ohashi K | Clinical cancer research : an official journal of the American Association for Cancer Research | 2013 | PMID: 23515407 |
MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. | Ascierto PA | The Lancet. Oncology | 2013 | PMID: 23414587 |
Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | Janku F | Targeted oncology | 2013 | PMID: 23400451 |
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. | Kinsler VA | The Journal of investigative dermatology | 2013 | PMID: 23392294 |
First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. | Martinez-Garcia M | Clinical cancer research : an official journal of the American Association for Cancer Research | 2012 | PMID: 22761467 |
Activated mutant NRas(Q61K) drives aberrant melanocyte signaling, survival, and invasiveness via a Rac1-dependent mechanism. | Li A | The Journal of investigative dermatology | 2012 | PMID: 22718121 |
PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. | Janku F | PloS one | 2011 | PMID: 21829508 |
Development of molecular biomarkers in individualized treatment of colorectal cancer. | De Mattos-Arruda L | Clinical colorectal cancer | 2011 | PMID: 21729679 |
Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer. | Vaughn CP | Genes, chromosomes & cancer | 2011 | PMID: 21305640 |
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. | Nazarian R | Nature | 2010 | PMID: 21107323 |
NRAS mutations are rare in colorectal cancer. | Irahara N | Diagnostic molecular pathology : the American journal of surgical pathology, part B | 2010 | PMID: 20736745 |
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. | De Roock W | The Lancet. Oncology | 2010 | PMID: 20619739 |
RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. | Poulikakos PI | Nature | 2010 | PMID: 20179705 |
RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. | Hatzivassiliou G | Nature | 2010 | PMID: 20130576 |
A restricted spectrum of NRAS mutations causes Noonan syndrome. | Cirstea IC | Nature genetics | 2010 | PMID: 19966803 |
Recurring mutations found by sequencing an acute myeloid leukemia genome. | Mardis ER | The New England journal of medicine | 2009 | PMID: 19657110 |
Active N-Ras and B-Raf inhibit anoikis by downregulating Bim expression in melanocytic cells. | Goldstein NB | The Journal of investigative dermatology | 2009 | PMID: 18668139 |
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. | Dessars B | The Journal of investigative dermatology | 2009 | PMID: 18633438 |
Somatic mutations affect key pathways in lung adenocarcinoma. | Ding L | Nature | 2008 | PMID: 18948947 |
Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. | Adjei AA | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18390968 |
AZD6244 (ARRY-142886), a potent inhibitor of mitogen-activated protein kinase/extracellular signal-regulated kinase kinase 1/2 kinases: mechanism of action in vivo, pharmacokinetic/pharmacodynamic relationship, and potential for combination in preclinical models. | Davies BR | Molecular cancer therapeutics | 2007 | PMID: 17699718 |
BRAF mutation predicts sensitivity to MEK inhibition. | Solit DB | Nature | 2006 | PMID: 16273091 |
Distinct sets of genetic alterations in melanoma. | Curtin JA | The New England journal of medicine | 2005 | PMID: 16291983 |
Metastasizing melanoma formation caused by expression of activated N-RasQ61K on an INK4a-deficient background. | Ackermann J | Cancer research | 2005 | PMID: 15899789 |
BRAF and RAS mutations in human lung cancer and melanoma. | Brose MS | Cancer research | 2002 | PMID: 12460918 |
Human N-ras, TRK-T1, and RET/PTC3 oncogenes, driven by a thyroglobulin promoter, differently affect the expression of differentiation markers and the proliferation of thyroid epithelial cells. | Portella G | Oncology research | 1999 | PMID: 10821536 |
Ras mutations in human melanoma: a marker of malignant progression. | Ball NJ | The Journal of investigative dermatology | 1994 | PMID: 8120410 |
N-ras mutations in human cutaneous melanoma from sun-exposed body sites. | van 't Veer LJ | Molecular and cellular biology | 1989 | PMID: 2674680 |
http://docm.genome.wustl.edu/variants/ENST00000369535:c.181C>A | - | - | - | - |
Text-mined citations for rs121913254...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 20, 2023