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Gene | BRAF |
Variant | A598V |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF A598V lies within the protein kinase domain of the Braf protein (UniProt.org). A598V is associated with increased activation of Braf and downstream Mek and Erk in tumor samples (PMID: 19200582), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF A598X BRAF A598V BRAF mutant BRAF act mut BRAF A598V |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753342G>A |
cDNA | c.1793C>T |
Protein | p.A598V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |