Gene Variant Detail

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Gene BRAF
Variant V600A
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions BRAF V600A (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600A results in Mek phosphorylation levels similar to wild-type Braf in culture (PMID: 26744778), and therefore, is predicted to have no effect on Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF V600X BRAF V600A

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Transcript NM_004333.6
gDNA chr7:g.140753336A>G
cDNA c.1799T>C
Protein p.V600A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
NM_004333 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753336A>G c.1799T>C p.V600A RefSeq GRCh38/hg38

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