Gene Variant Detail

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Gene BRAF
Variant V600X
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF V600X indicates any BRAF missense mutation that results in replacement of the valine (V) at amino acid 600 by a different amino acid. BRAF V600 mutations are hotspot mutations that often result in increased Braf kinase activity (PMID: 15035987).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V600X

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Transcript NM_004333.6
gDNA chr7:g.140753335_140753337
cDNA c.1798_1800
Protein p.V600
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753335_140753337 c.1798_1800 p.V600 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600X PIK3CA H1047X ovarian carcinoma predicted - sensitive Bevacizumab + Pegylated liposomal doxorubicin + Temsirolimus Case Reports/Case Series Actionable In a clinical study, the combination of Torisel (temsirolimus) plus Avastin (bevacizumab) and Doxil (pegylated liposomal-doxorubicin) resulted in a partial response in a patient with ovarian clear cell carcinoma harboring PIK3CA H1047 and BRAF V600 mutations (PMID: 21216929). 21216929
BRAF V600X MAP2K1 V60E NRAS T58I NRAS Q61R melanoma predicted - resistant Vemurafenib Clinical Study - Cohort Actionable In a clinical study, a melanoma patient harboring a BRAF V600 mutation developed resistance-associated mutations, MAP2K1 V60E, NRAS T58I, and NRAS Q61R, after 18 weeks of treatment with Zelboraf (vemurafenib) (PMID: 24265153). 24265153
BRAF V600X BRAF amp NRAS Q61K melanoma resistant Vemurafenib Clinical Study - Cohort Actionable In a clinical study, a melanoma patient harboring a BRAF V600 mutation developed resistant mutations, BRAF amplification and NRAS Q61K, during treatment with Zelboraf (vemurafenib) (PMID: 24265153). 24265153
BRAF V600X PTEN H93D melanoma predicted - sensitive Vemurafenib Clinical Study - Cohort Actionable In a clinical study, a melanoma patient harboring a BRAF V600 mutation and PTEN H93D treated with Zelboraf (vemurafenib) for 66 weeks demonstrated a partial response (PMID: 24265153). 24265153
BRAF V600X PTEN neg melanoma sensitive Uprosertib Preclinical - Cell culture Actionable In a preclinical study, lack of PTEN expression was associated with increased sensitivity to GSK2141795 in BRAF V600-mutant melanoma cell lines in culture (PMID: 24265152). 24265152