Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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, Sep 2025). |
| 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 |
|---|---|---|---|---|---|
| XM_005268872 | chr12:g.68809270C>T | c.59C>T | p.P20L | RefSeq | GRCh38/hg38 |
| NM_001145337.3 | 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 |
| XM_005268872.5 | 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_001145340 | 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_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_001278462.2 | 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_001278462 | 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 |