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Gene CDKN2A
Variant D74Tfs*72
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A D74Tfs*72 indicates a shift in the reading frame starting at amino acid 74 and terminating 72 residues downstream causing a premature truncation of the 156 amino acid Cdkn2a protein (UniProt.org). D74Tfs*72 has not been characterized, however, due to the effects of other truncation mutations downstream of D74 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A D74Tfs*72

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Transcript NM_000077.5
gDNA chr9:g.21971139delC
cDNA c.220delG
Protein p.D74Tfs*72
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132.2 chr9:g.21971139delC c.220delG p.D74Tfs*72 RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971139delC c.220delG p.D74Tfs*72 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A D74Tfs*72 lung squamous cell carcinoma sensitive Carboplatin + Paclitaxel + Palbociclib Preclinical - Pdx Actionable In a preclinical study, the addition of Ibrance (palbociclib) to treatment with the combination of Paraplatin (carboplatin) and Taxol (paclitaxel) resulted in improved tumor growth inhibition compared to chemotherapy or Ibrance (palbociclib) alone in a patient-derived xenograft (PDX) model of squamous non-small cell lung cancer harboring CDKN2A D74Tfs*72 (PMID: 39199558). 39199558