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Gene | BRAF |
Variant | V600Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF V600Q (previously reported as V599Q) lies within the activation segment of the protein kinase domain of the Braf protein (PMID: 15035987). V600Q has been identified in the scientific literature (PMID: 28848703), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF V600X BRAF V600Q |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753336_140753337delGTinsCA |
cDNA | c.1798_1799delGTinsCA |
Protein | p.V600Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |