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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 |
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 |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753348C>A | c.1787G>T | p.G596V | RefSeq | GRCh38/hg38 |
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_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_004333 | 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_001378467.1 | chr7:g.140753357C>A | c.1787G>T | p.G596V | RefSeq | GRCh38/hg38 |
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 |