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Gene CDKN2A
Variant G23D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A G23D lies within the first ANK repeat of the Cdkn2a protein (UniProt.org). G23D results in a loss of Cdkn2a protein function, evidenced by loss of CDK4 binding, reduced inhibition of pRb phosphorylation, and impaired cell cycle arrest in cultured cells (PMID: 19712690, PMID: 19260062).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A G23D

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Transcript NM_000077.5
gDNA chr9:g.21974760C>T
cDNA c.68G>A
Protein p.G23D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_058197 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_000077 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974760C>T c.68G>A p.G23D RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References