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 | 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, Jun 2024). |
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 |
---|---|---|---|---|---|
XM_011517676.2 | 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_058197.4 | 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 |
NM_001195132.1 | 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 |
XM_011517676.3 | 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 |
XM_011517675.2 | chr9:g.21974702A>C | c.126T>G | p.N42K | RefSeq | GRCh38/hg38 |
NM_001195132.2 | 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 |
---|