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@jax.org

Gene MDM2
Variant S17D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions MDM2 S17D lies within the lid region of the Mdm2 protein (PMID: 12552135). S17D stabilizes MDM2-TP53 binding and enhances Tp53 protein ubiquitination in an in vitro assay (PMID: 19568783, PMID: 20303977).
Associated Drug Resistance
Category Variants Paths

MDM2 mutant MDM2 act mut MDM2 S17D

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.68809260_68809262delTCAinsGAC
cDNA c.49_51delTCAinsGAC
Protein p.S17D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001145337.2 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
XM_005268872.5 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001145340.2 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001278462 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001145340 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001278462.1 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001278462.2 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001145340.3 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001145337 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
XM_005268872 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001145337.3 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D RefSeq GRCh38/hg38
NM_001367990.1 chr12:g.68809260_68809262delTCAinsGAC c.49_51delTCAinsGAC p.S17D 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