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Gene | BRAF |
Variant | L505H |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF L505H lies within the protein kinase domain of the Braf protein (UniProt.org). L505H confers a gain of function to the Braf protein resulting in MEK/ERK activation and oncogenic transformation in cultured cells, and is associated with resistance to RAF inhibitors (PMID: 24283590). |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF L505H |
Transcript | NM_004333.6 |
gDNA | chr7:g.140777994A>T |
cDNA | c.1514T>A |
Protein | p.L505H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |