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Gene | CDKN2A |
Variant | V51I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A V51I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). V51I rescues G1-cell cycle arrest similar to wild-type Cdkn2a in cultured cells (PMID: 11113205), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A V51I |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971208C>T |
cDNA | c.151G>A |
Protein | p.V51I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |