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Gene | BRAF |
Variant | T599K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF T599K lies within the protein kinase domain of the Braf protein (UniProt.org). T599K is predicted to lead to a gain of Braf protein function as demonstrated by increased Erk phosphorylation in culture, and is associated with resistance to Raf inhibitors (PMID: 31158244). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599K BRAF mutant BRAF T599X BRAF T599K |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753339G>T |
cDNA | c.1796C>A |
Protein | p.T599K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |