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Gene CDKN2A
Variant L16R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A L16R lies within ANK repeat 1 of the Cdkn2a protein (UniProt.org). L16R confers a loss of function to Cdkn2a as demonstrated by loss of Cdk4 and Cdk6 binding, failure to inhibit cell cycle progression (PMID: 33823155, PMID: 35001868) and proliferation (PMID: 35001868) in culture.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A L16R

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Transcript NM_000077.5
gDNA chr9:g.21974781A>C
cDNA c.47T>G
Protein p.L16R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675.2 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974781A>C c.47T>G p.L16R RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974781A>C c.47T>G p.L16R 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.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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