Gene Variant Detail

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Gene CDKN2A
Variant G23C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A G23C lies within ANK repeat 1 of the Cdk2na protein (UniProt.org). G23C results in a loss of growth inhibition compared to wild-type Cdkn2a in culture (PMID: 24659262), 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 G23C

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Transcript NM_000077.5
gDNA chr9:g.21974761C>A
cDNA c.67G>T
Protein p.G23C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058197.4 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_000077 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_058197 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974761C>A c.67G>T p.G23C RefSeq GRCh38/hg38

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