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Gene | BRAF |
Variant | G469R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF G469R is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469R demonstrates intermediate BRAF kinase activity (PMID: 28783719), results in constitutive ERK activation in cell culture (PMID: 24920063), and in one of two cell lines leads to increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF G469R BRAF mutant BRAF G469X BRAF G469R |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781603C>T |
cDNA | c.1405G>A |
Protein | p.G469R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |