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Gene | BRAF |
Variant | G466V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRAF G466V lies within the protein kinase domain of the Braf protein (UniProt.org). G466V results in impaired Braf kinase activity, but paradoxically activates MEK and ERK through transactivation of CRAF in cell culture (PMID: 22649091, PMID: 28783719), and in one of two cell lines, G466V decreased cell proliferation and cell viability as compared to wild-type Braf (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G466X BRAF G466V BRAF mutant BRAF inact mut BRAF G466V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781611C>A |
cDNA | c.1397G>T |
Protein | p.G466V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047420766.1 | chr7:g.140778075C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140777053C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140778000C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140777053C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF G466V NRAS Q61K | lung non-small cell carcinoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) growth of a non-small cell lung cancer cell line harboring BRAF G466V and expressing NRAS Q61K in culture (PMID: 28783719). | 28783719 |