CDKN2A H83N
Gene Variant Detail

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Gene CDKN2A
Variant H83N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CDKN2A H83N lies within ANK repeat 3 of the Cdkn2a protein (UniProt.org). H83N results in decreased inhibition of Cdk4 kinase activity in an in vitro assay (PMID: 9660926) and failure to inhibit proliferation in a high-throughput cell culture assay (PMID: 40238651).
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A H83N

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Transcript NM_000077.5
gDNA chr9:g.21971112G>T
cDNA c.247C>A
Protein p.H83N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077.4 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
NM_000077 chr9:g.21971112G>T c.247C>A p.H83N RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971112G>T c.247C>A p.H83N 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