Gene Variant Detail

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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 cell cycle control in culture (PMID: 9053859, PMID: 8668202).
Associated Drug Resistance

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Transcript NM_000077
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
XM_011517675 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
NM_001195132 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

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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