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Gene | BRAF |
Variant | K601E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF K601E lies within the activation segment in the kinase domain of the Braf protein (PMID: 15343278). K601E results in increased Braf kinase activity and downstream activation of MEK and ERK in cell culture (PMID: 22798288, PMID: 28783719, PMID: 32059434), and induces cell proliferation and cell viability in culture (PMID: 29533785, PMID: 18697864). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601E BRAF mutant BRAF K601X BRAF K601E |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753334T>C |
cDNA | c.1801A>G |
Protein | p.K601E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |