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CDKN2A A57V - Gene Variant Detail

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Gene CDKN2A
Variant A57V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A A57V lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). A57V results in a partial loss of Cdk4 binding but supports cell proliferation levels similar to wild-type Cdkn2a in culture (PMID: 19260062), demonstrates impaired ability to regulate oxidative stress and altered cell cycle distribution (PMID: 23190892), and suppresses BRC-ABL1-mediated transformation and phosphorylation of Rb and Cdk4 similar to wild-type protein in cell culture (PMID: 34369425), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A A57V

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Transcript NM_000077.5
gDNA chr9:g.21971189G>A
cDNA c.170C>T
Protein p.A57V
Source Database RefSeq
Genome Build GRCh38/hg38

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