CDKN2A R87L
Gene Variant Detail

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Gene CDKN2A
Variant R87L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A R87L lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). R87L confers a loss of function to the Cdkn2a protein as demonstrated by loss of Cdk6 kinase inhibition and a reduction in the ability to induce cell cycle arrest in culture (PMID: 10491434).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A R87L

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Transcript NM_000077.5
gDNA chr9:g.21971099C>A
cDNA c.260G>T
Protein p.R87L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001363763.2 chr9:g.21970946_21970947delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
NM_000077 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_005251343 chr9:g.21970946_21970947delCTinsAG c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_058195 chr9:g.21971142C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_005251343.1 chr9:g.21970946_21970947delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
NM_058197 chr9:g.21974568_21974569delCTinsAG c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21970946_21970947delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
XM_011517679 chr9:g.21970946_21970947delCTinsAG c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970946_21970947delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21970946_21970947delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
XM_011517679.1 chr9:g.21970946_21970947delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974568_21974569delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
NM_058195.4 chr9:g.21971142C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974568_21974569delAGinsCT c.259_260delAGinsCT p.R87L RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_058195.3 chr9:g.21971142C>A c.260G>T p.R87L RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971099C>A c.260G>T p.R87L RefSeq GRCh38/hg38

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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.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References