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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
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_000077 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_058197 chr9:g.21974658G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974658G>A c.170C>T p.A57V RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971189G>A c.170C>T p.A57V RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974658G>A c.170C>T p.A57V RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries