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Gene | BRAF |
Variant | L485S |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF L485S lies within the protein kinase domain of the Braf protein (UniProt.org). L485S is predicted to confer a gain of function to Braf as indicated by increased kinase activity in an in vitro assay (PMID: 18413255), and has been demonstrated to confer Braf inhibitor resistance in cell culture (PMID: 31925410). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF L485S BRAF mutant BRAF L485X BRAF L485S |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778054A>G |
cDNA | c.1454T>C |
Protein | p.L485S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |