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Gene | CDKN2A |
Variant | A76T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A A76T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A76T has been identified in sequencing studies (PMID: 31004019, PMID: 26164066, PMID: 34915860), 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 A76T |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971133C>T |
cDNA | c.226G>A |
Protein | p.A76T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |