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Gene | CDKN2A |
Variant | E119K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A E119K lies within ANK repeat 4 of the Cdkn2a protein (UniProt.org). E119K has been identified in the scientific literature (PMID: 37649695), 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 E119K |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971004C>T |
cDNA | c.355G>A |
Protein | p.E119K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |