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Gene | CDKN2A |
Variant | N71I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A N71I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71I confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, loss of binding to Cdk4 and Cdk6, and elevated Ki67 indicative of increased proliferation in cell culture (PMID: 20340136). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A N71I |
Transcript | NM_000077.5 |
gDNA | chr9:g.21971147T>A |
cDNA | c.212A>T |
Protein | p.N71I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077.5 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
NM_000077.4 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21971147T>A | c.212A>T | p.N71I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CDKN2A N71I | loss of function |