Gene Variant Detail

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Gene BRAF
Variant G596V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF G596V lies within the protein kinase domain of the Braf protein (UniProt.org). G596V results in activation of Erk in zebrafish models (PMID: 19376813), but impaired Braf kinase activity and does not activate downstream Mek and Erk in cell culture (PMID: 16439621), and is therefore predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G596X BRAF G596V

BRAF mutant BRAF inact mut BRAF G596V

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Transcript NM_004333.6
gDNA chr7:g.140753348C>A
cDNA c.1787G>T
Protein p.G596V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005250045 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_004333 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140753357C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF G596V lung non-small cell carcinoma predicted - sensitive Vemurafenib Case Reports/Case Series Actionable In a clinical case study, a non-small cell lung cancer patient harboring BRAF G596V demonstrated a partial response following treatment with Zelboraf (vemurafenib) (PMID: 26200454). 26200454