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Gene | CDKN2A |
Variant | L31V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A L31V lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L31V has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A L31V |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974737G>C |
cDNA | c.91C>G |
Protein | p.L31V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |