CDKN2A Q50*
Gene Variant Detail

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Gene CDKN2A
Variant Q50*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A Q50* results in a premature truncation of the Cdkn2a protein at amino acid 50 of 156 (UniProt.org). Q50* results in loss of Cdk binding in an in vitro assay (PMID: 8668202), and therefore, is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A Q50*

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Transcript NM_000077.5
gDNA chr9:g.21974680G>A
cDNA c.148C>T
Protein p.Q50*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_058197 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974680G>A c.148C>T p.Q50* RefSeq GRCh38/hg38

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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References