MDM2 C308Y
Gene Variant Detail

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Gene MDM2
Variant C308Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions MDM2 C308Y lies within the RanBP2-type zinc finger domain of the Mdm2 protein (UniProt.org). C308Y results in decreased Tp53 degradation (PMID: 17116689) and has been shown to confer MDM2 inhibitor resistance in cell culture (PMID: 23653682), and therefore, is predicted to lead to a loss of Mdm2 protein function.
Associated Drug Resistance Y
Category Variants Paths

MDM2 mutant MDM2 inact mut MDM2 C308Y

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Transcript NM_001367990.1
gDNA chr12:g.68839296G>A
cDNA c.923G>A
Protein p.C308Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005268872.5 chr12:g.68839296G>A c.923G>A p.C308Y RefSeq GRCh38/hg38
XM_005268872 chr12:g.68839296G>A c.923G>A p.C308Y RefSeq GRCh38/hg38
NM_001367990.1 chr12:g.68839296G>A c.923G>A p.C308Y 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MDM2 C308Y Advanced Solid Tumor predicted - resistant Nutlin-3a Preclinical - Biochemical Actionable In a preclinical study, MDM2 C308Y conferred moderate resistance to Nutlin-3a as demonstrated by decreased restoration of Tp53 activity in reporter assays in culture (PMID: 23653682). 23653682