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Gene | BRAF |
Variant | T599dup |
Impact List | duplication |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF T599dup (also referred to T599_V600insT) indicates the insertion of the duplicate amino acid, threonine (T)-599, in the protein kinase domain of the Braf protein (UniProt.org). T599dup results in increased kinase activity (PMID: 21190184), increased phosphorylation of Mek and Erk, and transformation in cell culture (PMID: 21190184, PMID: 38662982). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599dup |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753338_140753340dupTGT |
cDNA | c.1795_1797dupACA |
Protein | p.T599dup |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |