Gene Variant Detail

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Gene BRAF
Variant G466E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF G466E lies within the protein kinase domain of the Braf protein (UniProt.org). G466E results in impaired Braf kinase activity, but paradoxically increases Erk signaling through C-raf activation in cell culture and Xenopus embryos (PMID: 15035987), however, induces cell proliferation and cell viability similar to wild-type Braf (PMID: 29533785), and results in resistance to farnesyltransferase inhibitors in the context of Hras G13R (PMID: 39152269), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF G466X BRAF G466E

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Transcript NM_004333.6
gDNA chr7:g.140781611C>T
cDNA c.1397G>A
Protein p.G466E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378471.1 chr7:g.140778000C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_004333 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
XM_005250045 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140777052_140777053delGCinsAG c.1397_1398delGCinsAG p.G466E RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140777052_140777053delGCinsAG c.1397_1398delGCinsAG p.G466E RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
XM_047420766.1 chr7:g.140778074_140778075delGTinsAG c.1397_1398delGTinsAG p.G466E RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140781611C>T c.1397G>A p.G466E RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries