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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* |
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_000077.4 | 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 | 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 |
NM_058197.5 | chr9:g.21974499C>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 | chr9:g.21974499C>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_011517675 | 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 |
NM_001195132.1 | 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 |
NM_001195132 | chr9:g.21971030C>T | c.329G>A | p.W110* | RefSeq | GRCh38/hg38 |
XM_011517676.2 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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