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 | CDKN2A |
Variant | L31R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A L31R lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31R confers a loss of function to the Cdkn2a protein as demonstrated by the inability to inhibit kinase activity of the Cdk7 complex in culture (PMID: 11003668). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A L31R |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974736A>C |
cDNA | c.92T>G |
Protein | p.L31R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |