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Gene CDKN2A
Variant D108N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CDKN2A D108N does not lie within any known functional domains of the Cdkn2a protein (UniProt.org). D108N results in reduced stability of Cdkn2a protein and partially reduced ability to displace CDK4, but displaces Cdc37 from CDK6 to similar levels of wild-type Cdkn2a (PMID: 29091774), and therefore, its effect on Cdkn2a protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A D108N

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Transcript NM_000077.5
gDNA chr9:g.21971037C>T
cDNA c.322G>A
Protein p.D108N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000077 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
NM_001195132 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971037C>T c.322G>A p.D108N RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971037C>T c.322G>A p.D108N 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