Gene Variant Detail

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Gene BRAF
Variant V600M
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF V600M (previously reported as V599) lies within the activation segment of the kinase domain of the Braf protein (PMID: 15035987). V600M results in intermediate Braf kinase activity in cell culture (PMID: 28783719), and in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and is therefore predicted to confer a gain of function to the Braf protein.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600M

BRAF mutant BRAF V600X BRAF V600M

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Transcript NM_004333.5
gDNA chr7:g.140753337C>T
cDNA c.1798G>A
Protein p.V600M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140753337C>T c.1798G>A p.V600M RefSeq GRCh38/hg38
NM_004333 chr7:g.140753337C>T c.1798G>A p.V600M RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753337C>T c.1798G>A p.V600M RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753337C>T c.1798G>A p.V600M 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 )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • 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
BRAF V600M lung non-small cell carcinoma predicted - sensitive Vemurafenib Case Reports/Case Series Actionable In a Phase II trial, Zelboraf (vemurafenib) treatment resulted in a objective response rate of 44.8% (43/96), median duration of response of 6.4 months, median progression-free survival (PFS) of 5.2 months, and median overall survival of 10 months in non-small cell lung cancer patients with BRAF V600 mutations, with a PFS of 5.9 months in the patient harboring BRAF V600M (PMID: 31959346; NCT02304809). 31959346