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Gene | MDM2 |
Variant | P20L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MDM2 P20L lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). P20L has been shown to confer moderate MDM2 inhibitor resistance in cell culture (PMID: 23653682, PMID: 24278380), but has not been biochemically characterized and therefore, its effect on Mdm2 protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
MDM2 mutant MDM2 P20L |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68809270C>T |
cDNA | c.59C>T |
Protein | p.P20L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001145337.3 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_005268872 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001145340.3 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001145337 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001145337.2 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001278462 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001278462.2 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001145340.2 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001145340 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
NM_001278462.1 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MDM2 P20L | Advanced Solid Tumor | predicted - resistant | Nutlin-3a | Preclinical - Biochemical | Actionable | In a preclinical study, MDM2 P20L conferred moderate resistance to Nutlin-3a as demonstrated by decreased restoration of Tp53 activity in reporter assays in culture, and impaired inhibition of Mdm2-Tp53 interaction in in vitro assays (PMID: 23653682). | 23653682 |