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Gene | CDKN2A |
Variant | P48L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CDKN2A P48L lies within ANK repeat 2 of the Cdkn2a protein (UniProt.org). P48L confers a loss of function to the Cdkn2a protein as demonstrated by loss of cell cycle control (PMID: 10491434), and decreased Cdk4/6 binding (PMID: 10498896). |
Associated Drug Resistance | |
Category Variants Paths |
CDKN2A mutant CDKN2A inact mut CDKN2A P48L |
Transcript | NM_000077.5 |
gDNA | chr9:g.21974685G>A |
cDNA | c.143C>T |
Protein | p.P48L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000077.4 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
XM_011517675.3 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_058197 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_000077 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
XM_011517675 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_058197.4 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
XM_011517676 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_001195132.1 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_058197.5 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
XM_011517676.3 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_000077.5 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
XM_011517675.2 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_001195132 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
XM_011517676.2 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
NM_001195132.2 | chr9:g.21974685G>A | c.143C>T | p.P48L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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