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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 |
---|---|---|---|---|---|
NM_001354609.1 | chr7:g.140781611C>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_001378473.1 | chr7:g.140777053C>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_004333 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001378468.1 | 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 |
XM_047420766.1 | chr7:g.140778075C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
NM_001354609.2 | 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_001378471.1 | chr7:g.140778000C>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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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