Gene Variant Detail

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Gene BRAF
Variant V600G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF V600G (previously reported as V599G) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600G confers a gain of function to Braf as indicated by increased phosphorylation of MEK and ERK and activation of ELK in culture (PMID: 20735442, PMID: 26744778), and in one of two cell lines, increased cell proliferation and viability compared to wild-type Braf (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600G

BRAF mutant BRAF V600X BRAF V600G

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Transcript NM_004333.5
gDNA chr7:g.140753336A>C
cDNA c.1799T>G
Protein p.V600G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753336A>C c.1799T>G p.V600G RefSeq GRCh38/hg38
NM_004333 chr7:g.140753336A>C c.1799T>G p.V600G RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336A>C c.1799T>G p.V600G RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753336A>C c.1799T>G p.V600G RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References