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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs113488022

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr7:140753336 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00002 (2/121220, ExAC)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRAF : Missense Variant
Publications
72 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 7 NC_000007.14:g.140753336A>C
GRCh38.p12 chr 7 NC_000007.14:g.140753336A>G
GRCh38.p12 chr 7 NC_000007.14:g.140753336A>T
GRCh37.p13 chr 7 NC_000007.13:g.140453136A>C
GRCh37.p13 chr 7 NC_000007.13:g.140453136A>G
GRCh37.p13 chr 7 NC_000007.13:g.140453136A>T
BRAF RefSeqGene (LRG_299) NG_007873.3:g.176429T>G
BRAF RefSeqGene (LRG_299) NG_007873.3:g.176429T>C
BRAF RefSeqGene (LRG_299) NG_007873.3:g.176429T>A
Gene: BRAF, B-Raf proto-oncogene, serine/threonine kinase (minus strand)
Molecule type Change Amino acid[Codon] SO Term
BRAF transcript variant 1 NM_004333.5:c.1799T>G V [GTG] > G [GGG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1 NP_004324.2:p.Val600Gly V (Val) > G (Gly) Missense Variant
BRAF transcript variant 1 NM_004333.5:c.1799T>C V [GTG] > A [GCG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1 NP_004324.2:p.Val600Ala V (Val) > A (Ala) Missense Variant
BRAF transcript variant 1 NM_004333.5:c.1799T>A V [GTG] > E [GAG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 1 NP_004324.2:p.Val600Glu V (Val) > E (Glu) Missense Variant
BRAF transcript variant 2 NM_001354609.1:c.1799T>G V [GTG] > G [GGG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2 NP_001341538.1:p.Val600Gly V (Val) > G (Gly) Missense Variant
BRAF transcript variant 2 NM_001354609.1:c.1799T>C V [GTG] > A [GCG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2 NP_001341538.1:p.Val600Ala V (Val) > A (Ala) Missense Variant
BRAF transcript variant 2 NM_001354609.1:c.1799T>A V [GTG] > E [GAG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform 2 NP_001341538.1:p.Val600Glu V (Val) > E (Glu) Missense Variant
BRAF transcript variant 3 NR_148928.1:n.2897T>G N/A Non Coding Transcript Variant
BRAF transcript variant 3 NR_148928.1:n.2897T>C N/A Non Coding Transcript Variant
BRAF transcript variant 3 NR_148928.1:n.2897T>A N/A Non Coding Transcript Variant
BRAF transcript variant X1 XM_017012558.1:c.1919T>G V [GTG] > G [GGG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1 XP_016868047.1:p.Val640Gly V (Val) > G (Gly) Missense Variant
BRAF transcript variant X1 XM_017012558.1:c.1919T>C V [GTG] > A [GCG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1 XP_016868047.1:p.Val640Ala V (Val) > A (Ala) Missense Variant
BRAF transcript variant X1 XM_017012558.1:c.1919T>A V [GTG] > E [GAG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X1 XP_016868047.1:p.Val640Glu V (Val) > E (Glu) Missense Variant
BRAF transcript variant X2 XM_017012559.1:c.1919T>G V [GTG] > G [GGG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2 XP_016868048.1:p.Val640Gly V (Val) > G (Gly) Missense Variant
BRAF transcript variant X2 XM_017012559.1:c.1919T>C V [GTG] > A [GCG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2 XP_016868048.1:p.Val640Ala V (Val) > A (Ala) Missense Variant
BRAF transcript variant X2 XM_017012559.1:c.1919T>A V [GTG] > E [GAG] Coding Sequence Variant
serine/threonine-protein kinase B-raf isoform X2 XP_016868048.1:p.Val640Glu V (Val) > E (Glu) Missense Variant
BRAF transcript variant X3 XR_001744857.1:n.1927T>G N/A Non Coding Transcript Variant
BRAF transcript variant X3 XR_001744857.1:n.1927T>C N/A Non Coding Transcript Variant
BRAF transcript variant X3 XR_001744857.1:n.1927T>A N/A Non Coding Transcript Variant
BRAF transcript variant X4 XR_001744858.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 48859 )
ClinVar Accession Disease Names Clinical Significance
RCV000208774.1 Cardio-facio-cutaneous syndrome Pathogenic
RCV000433794.1 Cutaneous melanoma Pathogenic
Allele: G (allele ID: 363167 )
ClinVar Accession Disease Names Clinical Significance
RCV000445347.1 Cutaneous melanoma Likely-Pathogenic
Allele: T (allele ID: 29000 )
ClinVar Accession Disease Names Clinical Significance
RCV000014992.14 Carcinoma of colon Pathogenic
RCV000014993.15 Papillary thyroid carcinoma Pathogenic
RCV000014994.14 Astrocytoma, low-grade, somatic Pathogenic
RCV000022677.14 Germ cell tumor, nonseminomatous Pathogenic
RCV000037936.3 Non-small cell lung cancer Pathogenic
RCV000067669.14 Cutaneous melanoma Pathogenic
RCV000080903.4 not provided Pathogenic
RCV000208763.1 Cardio-facio-cutaneous syndrome Pathogenic
RCV000417746.1 Malignant melanoma of skin Likely-Pathogenic
RCV000420614.1 Neoplasm of the colon Likely-Pathogenic
RCV000424470.1 Squamous cell carcinoma of the head and neck Likely-Pathogenic
RCV000425166.1 Brainstem glioma Likely-Pathogenic
RCV000425847.1 Glioblastoma Likely-Pathogenic
RCV000429915.1 Lung adenocarcinoma Likely-Pathogenic
RCV000430562.1 Multiple myeloma Likely-Pathogenic
RCV000432628.1 Ovarian Neoplasms Pathogenic
RCV000433305.1 Lung cancer Pathogenic
RCV000435441.1 Neoplasm of brain Likely-Pathogenic
RCV000440540.1 Gastrointestinal stroma tumor Pathogenic
RCV000440802.1 Papillary renal cell carcinoma, sporadic Likely-Pathogenic
RCV000443448.1 Neoplasm Likely-Pathogenic
RCV000443745.1 Neoplasm of the large intestine Pathogenic
RCV000662278.1 Cystic epithelial invagination containing papillae lined by columnar epithelium Pathogenic
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
ExAC Global Study-wide 121220 A=0.99998 T=0.00002
ExAC Europe Sub 73298 A=1.0000 T=0.0000
ExAC Asian Sub 25146 A=1.0000 T=0.0000
ExAC American Sub 11474 A=0.9999 T=0.0001
ExAC African Sub 10396 A=1.0000 T=0.0000
ExAC Other Sub 906 A=1.00 T=0.00
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= C G T Note
GRCh38.p12 chr 7 NC_000007.14:...

NC_000007.14:g.140753336A=

NC_000007.14:...

NC_000007.14:g.140753336A>C

NC_000007.14:...

NC_000007.14:g.140753336A>G

NC_000007.14:...

NC_000007.14:g.140753336A>T

GRCh37.p13 chr 7 NC_000007.13:...

NC_000007.13:g.140453136A=

NC_000007.13:...

NC_000007.13:g.140453136A>C

NC_000007.13:...

NC_000007.13:g.140453136A>G

NC_000007.13:...

NC_000007.13:g.140453136A>T

BRAF RefSeqGene (LRG_299) NG_007873.3:g...

NG_007873.3:g.176429T=

NG_007873.3:g...

NG_007873.3:g.176429T>G

NG_007873.3:g...

NG_007873.3:g.176429T>C

NG_007873.3:g...

NG_007873.3:g.176429T>A

BRAF transcript variant 1 NM_004333.5:c...

NM_004333.5:c.1799T=

NM_004333.5:c...

NM_004333.5:c.1799T>G

NM_004333.5:c...

NM_004333.5:c.1799T>C

NM_004333.5:c...

NM_004333.5:c.1799T>A

BRAF transcript NM_004333.4:c...

NM_004333.4:c.1799T=

NM_004333.4:c...

NM_004333.4:c.1799T>G

NM_004333.4:c...

NM_004333.4:c.1799T>C

NM_004333.4:c...

NM_004333.4:c.1799T>A

BRAF transcript variant 2 NM_001354609....

NM_001354609.1:c.1799T=

NM_001354609....

NM_001354609.1:c.1799T>G

NM_001354609....

NM_001354609.1:c.1799T>C

NM_001354609....

NM_001354609.1:c.1799T>A

BRAF transcript variant 3 NR_148928.1:n...

NR_148928.1:n.2897T=

NR_148928.1:n...

NR_148928.1:n.2897T>G

NR_148928.1:n...

NR_148928.1:n.2897T>C

NR_148928.1:n...

NR_148928.1:n.2897T>A

BRAF transcript variant X1 XM_017012558....

XM_017012558.1:c.1919T=

XM_017012558....

XM_017012558.1:c.1919T>G

XM_017012558....

XM_017012558.1:c.1919T>C

XM_017012558....

XM_017012558.1:c.1919T>A

BRAF transcript variant X2 XM_017012559....

XM_017012559.1:c.1919T=

XM_017012559....

XM_017012559.1:c.1919T>G

XM_017012559....

XM_017012559.1:c.1919T>C

XM_017012559....

XM_017012559.1:c.1919T>A

BRAF transcript variant X3 XR_001744857....

XR_001744857.1:n.1927T=

XR_001744857....

XR_001744857.1:n.1927T>G

XR_001744857....

XR_001744857.1:n.1927T>C

XR_001744857....

XR_001744857.1:n.1927T>A

serine/threonine-protein kinase B-raf isoform 1 NP_004324.2:p...

NP_004324.2:p.Val600=

NP_004324.2:p...

NP_004324.2:p.Val600Gly

NP_004324.2:p...

NP_004324.2:p.Val600Ala

NP_004324.2:p...

NP_004324.2:p.Val600Glu

serine/threonine-protein kinase B-raf isoform 2 NP_001341538....

NP_001341538.1:p.Val600=

NP_001341538....

NP_001341538.1:p.Val600Gly

NP_001341538....

NP_001341538.1:p.Val600Ala

NP_001341538....

NP_001341538.1:p.Val600Glu

serine/threonine-protein kinase B-raf isoform X1 XP_016868047....

XP_016868047.1:p.Val640=

XP_016868047....

XP_016868047.1:p.Val640Gly

XP_016868047....

XP_016868047.1:p.Val640Ala

XP_016868047....

XP_016868047.1:p.Val640Glu

serine/threonine-protein kinase B-raf isoform X2 XP_016868048....

XP_016868048.1:p.Val640=

XP_016868048....

XP_016868048.1:p.Val640Gly

XP_016868048....

XP_016868048.1:p.Val640Ala

XP_016868048....

XP_016868048.1:p.Val640Glu

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

35 SubSNP, 1 Frequency, 26 ClinVar submissions
No Submitter Submission ID Date (Build)
1 MPIMG-CANCERGENOMICS ss218178475 Jul 04, 2010 (132)
2 DF-BWCC ss275515231 Nov 22, 2010 (133)
3 DF-BWCC ss275515233 Nov 22, 2010 (133)
4 OMIM-CURATED-RECORDS ss275518048 Dec 03, 2010 (133)
5 YSAMUELS ss344939594 Aug 10, 2012 (137)
6 CLINVAR ss831879180 Nov 05, 2013 (136)
7 EVA_EXAC ss1688979043 Apr 01, 2015 (144)
8 YSAMUELS ss1849950347 Feb 12, 2016 (147)
9 YSAMUELS ss1849950348 Feb 12, 2016 (147)
10 YSAMUELS ss1849950349 Feb 12, 2016 (147)
11 YSAMUELS ss1849950350 Feb 12, 2016 (147)
12 YSAMUELS ss1849950351 Feb 12, 2016 (147)
13 YSAMUELS ss1849950352 Feb 12, 2016 (147)
14 YSAMUELS ss1849950353 Feb 12, 2016 (147)
15 YSAMUELS ss1849950354 Feb 12, 2016 (147)
16 YSAMUELS ss1849950355 Feb 12, 2016 (147)
17 YSAMUELS ss1849950356 Feb 12, 2016 (147)
18 YSAMUELS ss1849950357 Feb 12, 2016 (147)
19 YSAMUELS ss1849950358 Feb 12, 2016 (147)
20 YSAMUELS ss1849950359 Feb 12, 2016 (147)
21 YSAMUELS ss1849950360 Feb 12, 2016 (147)
22 YSAMUELS ss1849950361 Feb 12, 2016 (147)
23 YSAMUELS ss1849950362 Feb 12, 2016 (147)
24 YSAMUELS ss1849950363 Feb 12, 2016 (147)
25 YSAMUELS ss1849950364 Feb 12, 2016 (147)
26 YSAMUELS ss1849950365 Feb 12, 2016 (147)
27 YSAMUELS ss1849950366 Feb 12, 2016 (147)
28 YSAMUELS ss1849950367 Feb 12, 2016 (147)
29 YSAMUELS ss1849950368 Feb 12, 2016 (147)
30 YSAMUELS ss1849950369 Feb 12, 2016 (147)
31 YSAMUELS ss1849950370 Feb 12, 2016 (147)
32 YSAMUELS ss1849950371 Feb 12, 2016 (147)
33 YSAMUELS ss1849950372 Feb 12, 2016 (147)
34 YSAMUELS ss1849950373 Feb 12, 2016 (147)
35 GNOMAD ss2736818121 Nov 08, 2017 (151)
36 ExAC NC_000007.13 - 140453136 Oct 12, 2018 (152)
37 ClinVar RCV000014992.14 Oct 12, 2018 (152)
38 ClinVar RCV000014993.15 Oct 12, 2018 (152)
39 ClinVar RCV000014994.14 Oct 12, 2018 (152)
40 ClinVar RCV000022677.14 Oct 12, 2018 (152)
41 ClinVar RCV000037936.3 Oct 12, 2018 (152)
42 ClinVar RCV000067669.14 Oct 12, 2018 (152)
43 ClinVar RCV000080903.4 Oct 12, 2018 (152)
44 ClinVar RCV000208763.1 Oct 12, 2018 (152)
45 ClinVar RCV000208774.1 Oct 12, 2018 (152)
46 ClinVar RCV000417746.1 Oct 12, 2018 (152)
47 ClinVar RCV000420614.1 Oct 12, 2018 (152)
48 ClinVar RCV000424470.1 Oct 12, 2018 (152)
49 ClinVar RCV000425166.1 Oct 12, 2018 (152)
50 ClinVar RCV000425847.1 Oct 12, 2018 (152)
51 ClinVar RCV000429915.1 Oct 12, 2018 (152)
52 ClinVar RCV000430562.1 Oct 12, 2018 (152)
53 ClinVar RCV000432628.1 Oct 12, 2018 (152)
54 ClinVar RCV000433305.1 Oct 12, 2018 (152)
55 ClinVar RCV000433794.1 Oct 12, 2018 (152)
56 ClinVar RCV000435441.1 Oct 12, 2018 (152)
57 ClinVar RCV000440540.1 Oct 12, 2018 (152)
58 ClinVar RCV000440802.1 Oct 12, 2018 (152)
59 ClinVar RCV000443448.1 Oct 12, 2018 (152)
60 ClinVar RCV000443745.1 Oct 12, 2018 (152)
61 ClinVar RCV000445347.1 Oct 12, 2018 (152)
62 ClinVar RCV000662278.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
RCV000208774.1, RCV000433794.1, ss831879180 NC_000007.14:140753335:A:C NC_000007.14:140753335:A:C (self)
RCV000445347.1, ss275515231 NC_000007.14:140753335:A:G NC_000007.14:140753335:A:G (self)
9063858, ss1688979043, ss1849950347, ss1849950348, ss1849950349, ss1849950350, ss1849950351, ss1849950352, ss1849950353, ss1849950354, ss1849950355, ss1849950356, ss1849950357, ss1849950358, ss1849950359, ss1849950360, ss1849950361, ss1849950362, ss1849950363, ss1849950364, ss1849950365, ss1849950366, ss1849950367, ss1849950368, ss1849950369, ss1849950370, ss1849950371, ss1849950372, ss1849950373, ss2736818121 NC_000007.13:140453135:A:T NC_000007.14:140753335:A:T (self)
RCV000014992.14, RCV000014993.15, RCV000014994.14, RCV000022677.14, RCV000037936.3, RCV000067669.14, RCV000080903.4, RCV000208763.1, RCV000417746.1, RCV000420614.1, RCV000424470.1, RCV000425166.1, RCV000425847.1, RCV000429915.1, RCV000430562.1, RCV000432628.1, RCV000433305.1, RCV000435441.1, RCV000440540.1, RCV000440802.1, RCV000443448.1, RCV000443745.1, RCV000662278.1, ss275515233, ss275518048, ss344939594 NC_000007.14:140753335:A:T NC_000007.14:140753335:A:T (self)
ss218178475 NT_007914.15:1048758:A:T NC_000007.14:140753335:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

72 citations for rs113488022
PMID Title Author Year Journal
12068308 Mutations of the BRAF gene in human cancer. Davies H et al. 2002 Nature
12460918 BRAF and RAS mutations in human lung cancer and melanoma. Brose MS et al. 2002 Cancer research
12460919 Missense mutations of the BRAF gene in human lung adenocarcinoma. Naoki K et al. 2002 Cancer research
12960123 BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Kumar R et al. 2003 Clinical cancer research
14679157 Determinants of BRAF mutations in primary melanomas. Maldonado JL et al. 2003 Journal of the National Cancer Institute
15035987 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Wan PT et al. 2004 Cell
19001320 Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. Di Nicolantonio F et al. 2008 Journal of clinical oncology
19010912 Genetic predictors of MEK dependence in non-small cell lung cancer. Pratilas CA et al. 2008 Cancer research
19018267 KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. Nakayama N et al. 2008 British journal of cancer
19238210 Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. Gandhi J et al. 2009 PloS one
19404918 Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. Boulalas I et al. 2009 The International journal of biological markers
19537845 Clinical biomarkers in oncology: focus on colorectal cancer. De Roock W et al. 2009 Molecular diagnosis & therapy
19561230 V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. Agaimy A et al. 2009 Journal of clinical pathology
20350999 Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Tejpar S et al. 2010 The oncologist
20413299 Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. Tol J et al. 2010 European journal of cancer (Oxford, England
20619739 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 et al. 2010 The Lancet. Oncology
20630094 Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. Rubinstein JC et al. 2010 Journal of translational medicine
20735442 Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. Champion KJ et al. 2011 Clinical genetics
20818844 Inhibition of mutated, activated BRAF in metastatic melanoma. Flaherty KT et al. 2010 The New England journal of medicine
21129611 Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? Rizzo S et al. 2010 Cancer treatment reviews
21156289 Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. Villanueva J et al. 2010 Cancer cell
21163703 KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. De Roock W et al. 2011 The Lancet. Oncology
21426297 BRAF as a target for cancer therapy. Dienstmann R et al. 2011 Anti-cancer agents in medicinal chemistry
21483012 Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. Paik PK et al. 2011 Journal of clinical oncology
21639808 Improved survival with vemurafenib in melanoma with BRAF V600E mutation. Chapman PB et al. 2011 The New England journal of medicine
21683865 Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer--shifting the paradigm. Kurman RJ et al. 2011 Human pathology
21975775 Epidermal growth factor receptor blockers for the treatment of ovarian cancer. Haldar K et al. 2011 The Cochrane database of systematic reviews
22038996 Targeted therapy for BRAFV600E malignant astrocytoma. Nicolaides TP et al. 2011 Clinical cancer research
22048237 Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. Kirkwood JM et al. 2012 Clinical cancer research
22180495 Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. Yang H et al. 2012 Cancer research
22281684 Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Prahallad A et al. 2012 Nature
22351686 The HSP90 inhibitor XL888 overcomes BRAF inhibitor resistance mediated through diverse mechanisms. Paraiso KH et al. 2012 Clinical cancer research
22356324 Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. Sosman JA et al. 2012 The New England journal of medicine
22389471 Combinations of BRAF, MEK, and PI3K/mTOR inhibitors overcome acquired resistance to the BRAF inhibitor GSK2118436 dabrafenib, mediated by NRAS or MEK mutations. Greger JG et al. 2012 Molecular cancer therapeutics
22448344 EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. Corcoran RB et al. 2012 Cancer discovery
22536370 Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. Lovly CM et al. 2012 PloS one
22586120 Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy. Huillard E et al. 2012 Proceedings of the National Academy of Sciences of the United States of America
22608338 Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. Falchook GS et al. 2012 Lancet (London, England)
22649091 Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. Sen B et al. 2012 Science translational medicine
22663011 Improved survival with MEK inhibition in BRAF-mutated melanoma. Flaherty KT et al. 2012 The New England journal of medicine
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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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