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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 |
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_001195132.1 | 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 |
NM_001195132 | 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_011517675.2 | 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_000077.4 | 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 | 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 |
NM_001195132.2 | chr9:g.21971037C>T | c.322G>A | p.D108N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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