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Gene | CDKN2A |
Variant | D84H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A D84H lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84H 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 D84H |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971109C>G |
cDNA | c.250G>C |
Protein | p.D84H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011517675.3 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971109C>G | c.250G>C | p.D84H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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