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Gene | BRAF |
Variant | L485F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | BRAF L485F lies within the protein kinase domain of the Braf protein (UniProt.org). L485F confers a gain of function to the Braf protein as demonstrated by increased kinase activity and activation of downstream Mek and Erk in cell culture (PMID: 16439621), increased transcription of ELK in a reporter assay (PMID: 16474404), and in one of two cell lines, L485F increased cell proliferation and cell viability compared to wild-type Braf (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF L485F BRAF mutant BRAF L485X BRAF L485F |
Transcript | NM_004333.6 |
gDNA | chr7:g.140778053C>A |
cDNA | c.1455G>T |
Protein | p.L485F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |