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Gene | CDKN2A |
Variant | G101W |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A G101W lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). G101W confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk4 binding (PMID: 19260062, PMID: 20340136) and failure to inhibit cell proliferation and cell cycle progression in culture (PMID: 19260062, PMID: 20340136, PMID: 35001868). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A G101W |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971058C>A |
cDNA | c.301G>T |
Protein | p.G101W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077.5 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971058C>A | c.301G>T | p.G101W | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A G101W | loss of function |