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| Gene | CDKN2A |
| Variant | N42K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CDKN2A N42K does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42K has been identified in the scientific literature (PMID: 31741767), but has not been biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CDKN2A mutant CDKN2A N42K |
| Transcript | NM_000077.5 |
| gDNA | chr9:g.21974702A>C |
| cDNA | c.126T>G |
| Protein | p.N42K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001195132.2 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| XM_011517675.3 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| NM_058197.5 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| XM_011517675.2 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| NM_000077.4 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| NM_001195132.1 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| XM_011517676.3 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| NM_000077.5 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| NM_058197.4 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| XM_011517676.2 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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