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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 has been characterized both as having 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), 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 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_001354609.2 | 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_001378472.1 | chr7:g.140777053C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140777053C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
NM_004333 | 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_004333.6 | 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_001378471.1 | chr7:g.140778000C>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 |
XM_047420769.1 | chr7:g.140781611C>G | c.1397G>C | p.G466A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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