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Gene | BRAF |
Variant | G466R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF G466R (also referred to as G465R) lies within the glycine-rich loop in the protein kinase domain of the Braf protein (PMID: 14681681). G466R results in impaired Braf kinase activity, but activates Erk signaling in cell culture (PMID: 15046639), and in one of two cell lines, G466R decreased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, is predicted to lead to a loss of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G466X BRAF G466R BRAF mutant BRAF inact mut BRAF G466R |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781612C>T |
cDNA | c.1396G>A |
Protein | p.G466R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047420769.1 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140777054C>G | c.1396G>C | p.G466R | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140778001C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
XM_047420766.1 | chr7:g.140781576C>G | c.1396G>C | p.G466R | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140777054C>G | c.1396G>C | p.G466R | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140781612C>T | c.1396G>A | p.G466R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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