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Gene | CDKN2A |
Variant | H83Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A H83Q lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83Q has been identified in sequencing studies (PMID: 28506684, PMID: 12117769), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jan 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A H83Q |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971110G>T |
cDNA | c.249C>A |
Protein | p.H83Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |