Gene Variant Detail

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Gene BRAF
Variant D594G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF D594G lies within the protein kinase domain of the Braf protein (UniProt.org). D594G demonstrates increased transforming ability in one of two cell lines in culture (PMID: 29533785), however, results in impaired Braf kinase activity, but leads to increased activation of Erk signaling through Craf in cell culture (PMID: 18794803, PMID: 28783719), and also demonstrates Craf activation similar to wild-type Braf, but with enhanced dimerization and the ability to bypass autoinhibitory autophosphorylation in in vitro assays (PMID: 31929109), and confers Mek inhibitor resistance in culture (PMID: 18794803), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594G

BRAF mutant BRAF inact mut BRAF D594G

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Transcript NM_004333.6
gDNA chr7:g.140753354T>C
cDNA c.1781A>G
Protein p.D594G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
NM_004333 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753354T>C c.1781A>G p.D594G RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries