CDKN2A I49S
Gene Variant Detail

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Gene CDKN2A
Variant I49S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A I49S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). I49S 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 I49S

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Transcript NM_000077.5
gDNA chr9:g.21974682A>C
cDNA c.146T>G
Protein p.I49S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058197.4 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_058197.5 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_000077 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
XM_011517675 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_001195132 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_058197 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
XM_011517676 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21974682A>C c.146T>G p.I49S RefSeq GRCh38/hg38

Filtering

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