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Gene | BRAF |
Variant | A598_T599insV |
Impact List | insertion |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF A598_T599insV results in the insertion of a valine (V) in the protein kinase domain of the Braf protein between amino acids 598 and 599 (UniProt.org). A598_T599insV results in increased Braf kinase activity, increased downstream Mapk and Mek signaling, and the ability to transform cells in culture (PMID: 16501605). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF A598_T599insV |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753340_140753341insTAC |
cDNA | c.1794_1795insGTA |
Protein | p.A598_T599insV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |