Gene Variant Detail

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Gene BRAF
Variant G469E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G469E is a hotspot mutation that lies within the protein kinase domain of the Braf protein (UniProt.org). G469E results in decreased Braf kinase activity (PMID: 28783719, PMID: 15035987), but leads to Ras-dependent activation of Erk signaling (PMID: 28783719, PMID: 33795686), and results in increased cell proliferation and cell viability in one of two cell lines in culture (PMID: 29533785), and confers Mek inhibitor resistance in culture (PMID: 18794803), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF G469X BRAF G469E

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Transcript NM_004333.6
gDNA chr7:g.140781602C>T
cDNA c.1406G>A
Protein p.G469E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378470.1 chr7:g.140778000C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140781611C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_004333 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781602C>T c.1406G>A p.G469E RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries