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CDKN2A N71I - Gene Variant Detail

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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

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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_001195132 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
XM_011517676 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_011517675.2 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
NM_000077.4 chr9:g.21971147T>A c.212A>T p.N71I RefSeq GRCh38/hg38
NM_000077.5 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
XM_011517675 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
XM_011517676.3 chr9:g.21971147T>A c.212A>T p.N71I RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References