Gene Variant Detail

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Gene CDKN2A
Variant R80*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A R80* results in a premature truncation of the Cdkn2a protein at amino acid 80 of 156. R80* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202).
Associated Drug Resistance

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Transcript NM_000077
gDNA chr9:g.21971121G>A
cDNA c.238C>T
Protein p.R80*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517679 chr9:g.21970966_21970968delGCGinsTCA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
XM_005251343 chr9:g.21970966_21970968delGCGinsTCA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
NM_000077 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
CDKN2A R80* loss of function - predicted CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A R80* stomach carcinoma sensitive Palbociclib Preclinical - Cell line xenograft Actionable In a preclinical study, a gastric carcinoma cell line harboring CDKN2A R80* was sensitive to Ibrance (palbociclib) both in culture and in cell line xenograft models (PMID: 26380006, PMID: 20952405). 26380006 20952405