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Gene | CDKN2A |
Variant | M52I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A M52I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M52I has been identified in sequencing studies (PMID: 19593635), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A M52I |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971203C>G |
cDNA | c.156G>C |
Protein | p.M52I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |