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CDKN2A N71S - Gene Variant Detail

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Gene CDKN2A
Variant N71S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A N71S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). N71S confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization, reduced binding to Cdk4 and Cdk6, and a reduced ability to cause cell cycle arrest in cell culture (PMID: 10491434, PMID: 20340136).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A N71S

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Transcript NM_000077.5
gDNA chr9:g.21971147T>C
cDNA c.212A>G
Protein p.N71S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517675 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
NM_000077 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971147T>C c.212A>G p.N71S RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
CDKN2A N71S loss of function