Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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*

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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_000077.5
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_011517675.3 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_011517679.1 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
XM_011517675 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
XM_011517679 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_000077.4 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21970966_21970968delCGCinsTGA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
NM_001195132.1 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
NM_001363763.2 chr9:g.21970966_21970968delCGCinsTGA c.238_240delCGCinsTGA p.R80* RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971121G>A c.238C>T p.R80* RefSeq GRCh38/hg38
XM_047422598.1 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_047422596.1 chr9:g.21970966_21970968delCGCinsTGA c.238_240delCGCinsTGA p.R80* 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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