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 | G469V |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF G469V is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469V results in increased Braf kinase activity and activation of downstream MEK and ERK in cell culture (PMID: 28947956, PMID: 26343582, PMID: 28783719), and in one of two cell lines, increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF G469V BRAF mutant BRAF G469X BRAF G469V |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781602C>A |
| cDNA | c.1406G>T |
| Protein | p.G469V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004333.6 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_001378470.1 | chr7:g.140778000C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| NM_001378467.1 | chr7:g.140781611C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781602C>A | c.1406G>T | p.G469V | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT03843775 | Phase Ib/II | Binimetinib + Encorafenib | A Study of Binimetinib and Encorafenib in Advanced BRAF Mutant Cancers | Completed | USA | 0 |