Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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 is a BRAF class 3 variant that 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_001378474.1 | chr7:g.140781611C>A | c.1397G>T | p.G466V | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | 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_001354609.2 | 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_001378472.1 | chr7:g.140777053C>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_001378471.1 | chr7:g.140778000C>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 |
| NM_004333.6 | 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 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|