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 (UniProt.org). 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
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A R80*

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Transcript NM_000077.4
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_011517676.2 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
NM_001195132.1 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
NM_000077.4 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_005251343 chr9:g.21970966_21970968delGCGinsTCA c.238_240delCGCinsTGA 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
XM_011517675 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517679.1 chr9:g.21970966_21970968delCGCinsTGA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
XM_005251343.1 chr9:g.21970966_21970968delCGCinsTGA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38

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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