NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) AND Non-small cell lung cancer

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000418924.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)]

NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)

Gene:
ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)
HGVS:
  • NC_000019.10:g.45351661T>G
  • NG_007067.2:g.23927A>C
  • NM_000400.3:c.2251A>C
  • NM_000400.4:c.2251A>CMANE SELECT
  • NP_000391.1:p.Lys751Gln
  • NP_000391.1:p.Lys751Gln
  • LRG_461t1:c.2251A>C
  • LRG_461:g.23927A>C
  • LRG_461p1:p.Lys751Gln
  • NC_000019.9:g.45854919T>G
  • NM_000400.4:c.2251A>C
  • P18074:p.Lys751Gln
Protein change:
K751Q
Links:
UniProtKB: P18074#VAR_011416; dbSNP: rs13181
NCBI 1000 Genomes Browser:
rs13181
Molecular consequence:
  • NM_000400.3:c.2251A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000400.4:c.2251A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Non-small cell lung cancer (NSCLC)
Synonyms:
Non-small cell lung carcinoma
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505741Database of Curated Mutations (DoCM)no assertion providednot providedsomaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Japanese-US common-arm analysis of paclitaxel plus carboplatin in advanced non-small-cell lung cancer: a model for assessing population-related pharmacogenomics.

Gandara DR, Kawaguchi T, Crowley J, Moon J, Furuse K, Kawahara M, Teramukai S, Ohe Y, Kubota K, Williamson SK, Gautschi O, Lenz HJ, McLeod HL, Lara PN Jr, Coltman CA Jr, Fukuoka M, Saijo N, Fukushima M, Mack PC.

J Clin Oncol. 2009 Jul 20;27(21):3540-6. doi: 10.1200/JCO.2008.20.8793. Epub 2009 May 26.

PubMed [citation]
PMID:
19470925
PMCID:
PMC2717760

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505741.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

Support Center