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Gene | CDKN2A |
Variant | H66R |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CDKN2A H66R lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). H66R 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 H66R |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971162T>C |
cDNA | c.197A>G |
Protein | p.H66R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |