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 | R80P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CDKN2A R80P lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R80P has been identified in sequencing studies (PMID: 26919633, PMID: 31175866), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A R80P |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21971120C>G |
| cDNA | c.239G>C |
| Protein | p.R80P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |