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 | V82E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CDKN2A V82E lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82E has been identified in the scientific literature (PMID: 27245685, PMID: 31173267), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A V82E |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21971114A>T |
| cDNA | c.245T>A |
| Protein | p.V82E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001195132.1 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| NM_000077 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| NM_000077.5 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| XM_011517675.2 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| XM_011517676.3 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| NM_000077.4 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| XM_011517676 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| NM_001195132 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| XM_011517675 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| XM_011517676.2 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| NM_001195132.2 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| XM_011517675.3 | chr9:g.21971114A>T | c.245T>A | p.V82E | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|