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 | Q24R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | MDM2 Q24R lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). Q24R has been shown to confer MDM2 inhibitor resistance in 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 Q24R |
| Transcript | NM_001367990.1 |
| gDNA | chr12:g.68809282A>G |
| cDNA | c.71A>G |
| Protein | p.Q24R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001145337.2 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001145340.3 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001145337.3 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| XM_005268872 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001278462 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| XM_005268872.5 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001145340.2 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001145340 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001145337 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001278462.1 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001367990.1 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| NM_001278462.2 | chr12:g.68809282A>G | c.71A>G | p.Q24R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| MDM2 Q24R | Advanced Solid Tumor | predicted - resistant | Nutlin-3a | Preclinical - Biochemical | Actionable | In a preclinical study, MDM2 Q24R 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 |
| MDM2 Q24R | Advanced Solid Tumor | predicted - resistant | Nutlin-3a | Preclinical - Biochemical | Actionable | In a preclinical study, MDM2 Q24R conferred resistance to Nutlin-3a as demonstrated by decreased restoration of Tp53 activity in a reporter assay and decreased inhibition of the Mdm2-Tp53 interaction in culture (PMID: 24278380). | 24278380 |