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 impaired Braf kinase activity and does not activate downstream MEK and ERK in cell culture (PMID: 16439621), but leads to activation of ERK in zebrafish models (PMID: 19376813), 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_001354609.1 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_001378474.1 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_001354609.2 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_004333 chr7:g.140753348C>A c.1787G>T p.G596V RefSeq GRCh38/hg38

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  • 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 )
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  • 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 NRAS G13R colorectal cancer sensitive Cetuximab + LSN3074753 Preclinical - Pdx Actionable In a preclinical study, LSN3074753 and Erbitux (cetuximab) worked synergistically, resulting in tumor regression in a patient-derived xenograft model of colorectal cancer harboring BRAF G596V and NRAS G13R (PMID: 28611205). 28611205