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 D125fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CDKN2A D125fs results in a change in the amino acid sequence of the Cdkn2a protein beginning at aa 125 of 156, likely resulting in premature truncation of the functional protein (UniProt.org). D125fs has been identified in sequencing studies (PMID: 27882345, PMID: 23525077, PMID: 8637233), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A D125fs

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.(21970986_21970987)
cDNA c.(373_372)
Protein p.D125fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
NM_001195132 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
NM_000077 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
XM_011517675 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
NM_000077.4 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
NM_000077.5 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
XM_011517676 chr9:g.(21970986_21970987) c.(373_372) p.D125fs RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.(21970986_21970987) c.(373_372) p.D125fs 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 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in CDKN2A results in familial malignant melanoma syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
CDKN2A mutant pancreatic cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with pancreatic cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.2 weeks and an overall survival of 12.4 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...
CDKN2A mutant skin melanoma not applicable N/A Guideline Risk Factor Germline CDKN2A mutations or polymorphisms are associated with increased risk of developing single or multiple primary cutaneous melanomas (NCCN.org). detail...
CDKN2A mutant biliary tract cancer no benefit Palbociclib Phase II Actionable In a Phase II trial (TAPUR), patients with biliary cancer harboring a CDKN2A mutation or loss of CDKN2A (n=10) did not demonstrate an objective response or stable disease at 16 weeks when treated with single therapy, Ibrance (palbociclib), demonstrating a median progression-free survival of 7.3 weeks and an overall survival of 11.1 weeks (JCO Precision Oncology, Aug 14, 2019; NCT02693535). detail...