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Gene | CDKN2A |
Variant | R99G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CDKN2A R99G lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R99G results in proliferation and cell cycle inhibition similar to wild-type Cdkn2a in culture (PMID: 35001868), and therefore, is predicted to have no effect on Cdkn2a protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A R99G |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971064G>C |
cDNA | c.295C>G |
Protein | p.R99G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |