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| Gene | CDKN2A |
| Variant | D84Y |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | CDKN2A D84Y lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84Y confers a loss of function to the Cdk2na protein as demonstrated by an inability to bind to Cdk4 and Cdk6 (PMID: 10498896). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A D84Y |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21971109C>A |
| cDNA | c.250G>T |
| Protein | p.D84Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000077.5 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| XM_011517675 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| XM_011517676.2 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| NM_001195132.2 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| XM_011517675.3 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| NM_001195132.1 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| NM_000077 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| NM_000077.4 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| XM_011517676 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| XM_011517675.2 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| XM_011517676.3 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| NM_001195132 | chr9:g.21971109C>A | c.250G>T | p.D84Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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