Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | BRAF |
Variant | L525R |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | BRAF L525R lies within the protein kinase domain of the Braf protein (UniProt.org). L525R results in increased activation of Erk signaling in a dimer-dependent but RAS-independent manner (PMID: 31515458, PMID: 28972961), and therefore, is predicted to lead to a gain of Braf protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF act mut BRAF L525R |
Transcript | NM_004333.6 |
gDNA | chr7:g.140777032A>C |
cDNA | c.1574T>G |
Protein | p.L525R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |