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Gene | CDKN2A |
Variant | D84N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A D84N lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84N 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 D84N |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971109C>T |
cDNA | c.250G>A |
Protein | p.D84N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517676 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971109C>T | c.250G>A | p.D84N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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