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Gene | BRAF |
Variant | S605E |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF S605E lies within the protein kinase domain of the Braf protein (UniProt.org). S605E results in basal Mek phosphorylation similar to wild-type Braf but moderately decreased Mek phosphorylation upon Ras activation in culture (PMID: 27034005), and therefore, is predicted to lead to a loss of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF inact mut BRAF S605E |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753320_140753322delAGTinsGAG |
cDNA | c.1813_1815delAGTinsGAG |
Protein | p.S605E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |