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Gene MDM2
Variant M62V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MDM2 M62V lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). M62V has been shown to confer MDM2 inhibitor resistance in cell culture (PMID: 23653682), 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 M62V

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Transcript NM_001367990.1
gDNA chr12:g.68816839A>G
cDNA c.184A>G
Protein p.M62V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145337.2 chr12:g.68816839A>G c.184A>G p.M62V RefSeq GRCh38/hg38
NM_001145337.3 chr12:g.68816839A>G c.184A>G p.M62V RefSeq GRCh38/hg38
XM_005268872.5 chr12:g.68816839A>G c.184A>G p.M62V RefSeq GRCh38/hg38
XM_005268872 chr12:g.68816839A>G c.184A>G p.M62V RefSeq GRCh38/hg38
NM_001145337 chr12:g.68816839A>G c.184A>G p.M62V RefSeq GRCh38/hg38
NM_001367990.1 chr12:g.68816839A>G c.184A>G p.M62V RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MDM2 M62V Advanced Solid Tumor predicted - resistant Nutlin-3a Preclinical - Biochemical Actionable In a preclinical study, MDM2 M62V conferred partial 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