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Gene CDKN2A
Variant W110*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A W110* results in a premature truncation of the Cdkn2a protein at amino acid 110 of 156 (UniProt.org). W110* confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk binding and failure to restrict cell-cycle progression in culture (PMID: 9053859, PMID: 8668202).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A W110*

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Transcript NM_000077.5
gDNA chr9:g.21971030C>T
cDNA c.329G>A
Protein p.W110*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058197 chr9:g.21974499C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_000077 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974499C>T c.329G>A p.W110* RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971030C>T c.329G>A p.W110* RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974499C>T c.329G>A p.W110* RefSeq GRCh38/hg38

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

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A W110* loss of function CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor