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Gene | CDKN2A |
Variant | N42I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CDKN2A N42I does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). N42I has not been characterized in the scientific literature and therefore, its effect on Cdkn2a protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A N42I |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974703T>A |
cDNA | c.125A>T |
Protein | p.N42I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077.5 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974703T>A | c.125A>T | p.N42I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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