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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 |