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Gene | BRAF |
Variant | K601Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF K601Q lies within the activation segment in the kinase domain of the Braf protein (PMID: 19206169). K601Q confers a gain of function on Braf, as indicated by increased MEK and ERK phosphorylation, and is transforming in cell culture (PMID: 19206169, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF K601Q BRAF mutant BRAF K601X BRAF K601Q |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753334T>G |
cDNA | c.1801A>C |
Protein | p.K601Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |