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@jax.org

Gene CDKN2A
Variant N39_N42del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CDKN2A N39_N42del results in the deletion of four amino acids of the Cdkn2a protein from amino acids 39 to 42 (UniProt.org). N39_N42del has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A N39_N42del

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.21974702_21974713del12
cDNA c.116_127del12
Protein p.N39_N42delNAPN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42delNAPN RefSeq GRCh38/hg38
NM_058195.4 chr9:g.21994206_21994217del12 c.116_127del12 p.A39_A42delAPAA RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42del RefSeq GRCh38/hg38
NM_001363763.2 chr9:g.21971080_21971091del12 c.115_126del12 p.F39_T42delFLDT RefSeq GRCh38/hg38
XM_047422596.1 chr9:g.21971080_21971091del12 c.115_126del12 p.F39_T42delFLDT RefSeq GRCh38/hg38
NM_058197.4 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42del RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42delNAPN RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42del RefSeq GRCh38/hg38
XM_047422598.1 chr9:g.21971080_21971091del12 c.115_126del12 p.F39_T42delFLDT RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42del RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42delNAPN RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42delNAPN RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42delNAPN RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974702_21974713del12 c.116_127del12 p.N39_N42del RefSeq GRCh38/hg38
XM_047422597.1 chr9:g.21971080_21971091del12 c.115_126del12 p.F39_T42delFLDT 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 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 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 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...
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...