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Gene | CDKN2A |
Variant | A148T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A A148T does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). A148T results in inhibition of cell growth and binding to Cdk4 and Cdk6 similar to wild-type Cdkn2a (PMID: 10389768) and results in Cdk4 and Rb phosphorylation similar to wild-type Cdkn2a but decreased suppression of IL3-independent growth in BCR-ABL1-expressing cells in culture (PMID: 34369425), and therefore, its effect on Cdkn2a protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A A148T |
Transcript | NM_000077.5 |
gDNA | chr9:g.21970917C>T |
cDNA | c.442G>A |
Protein | p.A148T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |