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Gene | BRAF |
Variant | G593D |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BRAF G593D lies within the protein kinase domain of the Braf protein (UniProt.org). G593D results in similar Erk1/2 and Braf phosphorylation as wild-type Braf in culture (PMID: 32059434), and therefore, is predicted to have no effect on Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G593D |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753357C>T |
cDNA | c.1778G>A |
Protein | p.G593D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |