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 | M62A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | MDM2 M62A lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). M62A has been shown to confer MDM2 inhibitor resistance in cell culture (PMID: 23653682, PMID: 25115702, 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 M62A |
Transcript | NM_001367990.1 |
gDNA | chr12:g.68816839_68816840delATinsGC |
cDNA | c.184_185delATinsGC |
Protein | p.M62A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001145337.2 | chr12:g.68816839_68816840delATinsGC | c.184_185delATinsGC | p.M62A | RefSeq | GRCh38/hg38 |
XM_005268872 | chr12:g.68816839_68816840delATinsGC | c.184_185delATinsGC | p.M62A | RefSeq | GRCh38/hg38 |
NM_001145337.3 | chr12:g.68816839_68816840delATinsGC | c.184_185delATinsGC | p.M62A | RefSeq | GRCh38/hg38 |
XM_005268872.5 | chr12:g.68816839_68816840delATinsGC | c.184_185delATinsGC | p.M62A | RefSeq | GRCh38/hg38 |
NM_001367990.1 | chr12:g.68816839_68816840delATinsGC | c.184_185delATinsGC | p.M62A | RefSeq | GRCh38/hg38 |
NM_001145337 | chr12:g.68816839_68816840delATinsGC | c.184_185delATinsGC | p.M62A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MDM2 M62A | Advanced Solid Tumor | predicted - resistant | Nutlin-3a | Preclinical - Biochemical | Actionable | In a preclinical study, MDM2 M62A 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 |
MDM2 M62A | Advanced Solid Tumor | predicted - resistant | Nutlin-3a | Preclinical - Biochemical | Actionable | In a preclinical study, MDM2 M62A conferred 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 |