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| Gene | BRAF |
| Variant | G466A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BRAF G466A (also reported as G465A) lies within the protein kinase domain of the Braf protein (UniProt.org). The functional effect of G466A (also reported as G465A) is conflicting as it demonstrates both intermediate Braf kinase activity (PMID: 15035987) and low Braf kinase activity (PMID: 28783719), leads to Ras-dependent activation of downstream Erk in cell culture (PMID: 28783719), in one of two cell lines increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and results in decreased interaction with Mek in an in vitro assay (PMID: 38588399), and therefore, its effect on Braf protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF G466X BRAF G466A |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140781611C>G |
| cDNA | c.1397G>C |
| Protein | p.G466A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378474.1 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_001378472.1 | chr7:g.140777053C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| XM_047420766.1 | chr7:g.140778075C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_001378471.1 | chr7:g.140778000C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_001378473.1 | chr7:g.140777053C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| XM_047420769.1 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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