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Gene | BRAF |
Variant | S467L |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | BRAF S467L lies within the protein kinase domain of the Braf protein (UniProt.org). S467L results in impaired Braf kinase activity, but leads to Ras-dependent activation of Erk in cell culture (PMID: 28783719) and increased cell proliferation and cell viability in two different cell lines (PMID: 29533785), 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 S467L BRAF mutant BRAF S467X BRAF S467L |
Transcript | NM_004333.6 |
gDNA | chr7:g.140781608G>A |
cDNA | c.1400C>T |
Protein | p.S467L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |