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Gene BRAF
Variant G469A
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF G469A is a hotspot mutation within the protein kinase domain of the Braf protein (UniProt.org). G469A results in increased Braf kinase activity and downstream activation of Erk, and is transforming in cell culture (PMID: 19010912, PMID: 12068308, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF G469X BRAF G469A

BRAF mutant BRAF act mut BRAF G469A

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Transcript NM_004333.6
gDNA chr7:g.140781602C>G
cDNA c.1406G>C
Protein p.G469A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140778000C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140781611C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781602C>G c.1406G>C p.G469A RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT03843775 Phase Ib/II Binimetinib + Encorafenib A Study of Binimetinib and Encorafenib in Advanced BRAF Mutant Cancers Completed USA 0