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Gene MDM2
Variant C464A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MDM2 C464A lies within the RING-type zinc finger region of the Mdm2 protein (UniProt.org). C464A results in a loss of E3 ubiquitin ligase activity and Mdm2 self-ubiquitination (PMID: 30217928), failure to ubiquitinate and degrade Tp53 (PMID: 10980696, PMID: 17848574), Arc (PMID: 17142834), and Ar (PMID: 12145204), and inability to degrade Rb through proteasome-dependent mechanism in culture (PMID: 16337594).
Associated Drug Resistance
Category Variants Paths

MDM2 mutant MDM2 inact mut MDM2 C464A

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Transcript NM_001367990.1
gDNA chr12:g.68839763_68839764delTGinsGC
cDNA c.1390_1391delTGinsGC
Protein p.C464A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005268872 chr12:g.68839763_68839764delTGinsGC c.1390_1391delTGinsGC p.C464A RefSeq GRCh38/hg38
NM_001367990.1 chr12:g.68839763_68839764delTGinsGC c.1390_1391delTGinsGC p.C464A RefSeq GRCh38/hg38
XM_005268872.5 chr12:g.68839763_68839764delTGinsGC c.1390_1391delTGinsGC p.C464A 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 C464A triple-receptor negative breast cancer no benefit YF438 Preclinical - Cell culture Actionable In a preclinical study, YF438 treatment did not inhibit cell growth or induce apoptosis in triple-negative breast cancer cells expressing MDM2 C464A in culture (PMID: 33985974). 33985974