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Gene | CDKN2A |
Variant | V82M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A V82M lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). V82M has been identified in sequencing studies (PMID: 29348365, PMID: 27311873), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A V82M |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971115C>T |
cDNA | c.244G>A |
Protein | p.V82M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |