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Gene CDKN2A
Variant R24Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A R24Q lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). R24Q retains Cdk4 binding in culture (PMID: 19260062), inhibits proliferation and cell cycle progression to similar levels of wild-type protein in one study (PMID: 35001868), but results in impaired cell cycle and oxidative regulatory functions in another study (PMID: 23190892), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A R24Q

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Transcript NM_000077.5
gDNA chr9:g.21974757C>T
cDNA c.71G>A
Protein p.R24Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.3 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974757C>T c.71G>A p.R24Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries