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| Gene | CDKN2A |
| Variant | A68V |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | CDKN2A A68V lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A68V confers a loss of function to Cdkn2a as demonstrated by failure to inhibit proliferation and cell cycle progression in culture (PMID: 35001868). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A A68V |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21971156G>A |
| cDNA | c.203C>T |
| Protein | p.A68V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |