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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) and 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 is therefore predicted to confer a gain of function to the Braf protein. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF G469R BRAF mutant BRAF G469X BRAF G469R |
Transcript | NM_004333.5 |
gDNA | chr7:g.140781603C>T |
cDNA | c.1405G>A |
Protein | p.G469R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005250045 | chr7:g.140781603C>T | c.1405G>A | p.G469R | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140781603C>T | c.1405G>A | p.G469R | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140781603C>T | c.1405G>A | p.G469R | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140781603C>T | c.1405G>A | p.G469R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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