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 | L32P |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | CDKN2A L32P lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L32P confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A L32P |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21974733A>G |
| cDNA | c.95T>C |
| Protein | p.L32P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |