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Gene CDKN2A
Variant C72S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A C72S lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). C72S results in reduced formation of amyloid fibrils under oxidizing conditions compared to wild-type Cdkn2a in an in vitro assay (PMID: 31539802, PMID: 38951545) and inhibits Cdkn2a dimerization and amyloid aggregation in an in vitro assay and in cell culture (PMID: 38951545), but has not been fully biochemically characterized and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A C72S

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Transcript NM_000077.5
gDNA chr9:g.21971145A>T
cDNA c.214T>A
Protein p.C72S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011517676.3 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
NM_000077 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971145A>T c.214T>A p.C72S RefSeq GRCh38/hg38

Filtering

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