CDKN2A M53I
Gene Variant Detail

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Gene CDKN2A
Variant M53I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A M53I lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). M53I confers a loss of function to the Cdkn2a protein as demonstrated by mislocalization (PMID: 20340136), loss of binding to Cdk4 (PMID: 19260062, PMID: 20340136), and decreased inhibition of proliferation and cell cycle in culture (PMID: 35001868).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A M53I

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Transcript NM_000077.5
gDNA chr9:g.21971200C>G
cDNA c.159G>C
Protein p.M53I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971200C>G c.159G>C p.M53I RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971200C>G c.159G>C p.M53I 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References