Gene Variant Detail

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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

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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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References