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CDKN2A D84G - Gene Variant Detail

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Gene CDKN2A
Variant D84G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A D84G lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). D84G confers a loss of function to the Cdkn2a protein as demonstrated by a loss of Cdk binding, defective kinase inhibition, and aberrant proliferation of cells in culture (PMID: 10491434).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A D84G

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Transcript NM_000077.5
gDNA chr9:g.21971108T>C
cDNA c.251A>G
Protein p.D84G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.2 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
NM_000077 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971108T>C c.251A>G p.D84G RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
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Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries