Gene Variant Detail

Contact

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 L82P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions MDM2 L82P lies within the TP53-binding domain of the Mdm2 protein (PMID: 14707282). L82P has been associated with 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 L82P

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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_001367990.1
gDNA chr12:g.68816900T>C
cDNA c.245T>C
Protein p.L82P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145337 chr12:g.68816900T>C c.245T>C p.L82P RefSeq GRCh38/hg38
XM_005268872.5 chr12:g.68816900T>C c.245T>C p.L82P RefSeq GRCh38/hg38
NM_001367990.1 chr12:g.68816900T>C c.245T>C p.L82P RefSeq GRCh38/hg38
XM_005268872 chr12:g.68816900T>C c.245T>C p.L82P RefSeq GRCh38/hg38
NM_001145337.3 chr12:g.68816900T>C c.245T>C p.L82P RefSeq GRCh38/hg38
NM_001145337.2 chr12:g.68816900T>C c.245T>C p.L82P 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MDM2 L82P Advanced Solid Tumor predicted - resistant Nutlin-3a Preclinical - Biochemical Actionable In a preclinical study, MDM2 L82P 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