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 C305F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions MDM2 C305F lies within the RanBP2-type zinc finger domain of the Mdm2 protein (UniProt.org). C305F retains Tp53 binding and transcriptional inhibition but confers a loss of function to Mdm2 as demonstrated by impaired nuclear export, failure to bind the ribosomal proteins L5 or L11, and failure to mediate Tp53 degradation in culture (PMID: 17116689).
Associated Drug Resistance
Category Variants Paths

MDM2 mutant MDM2 inact mut MDM2 C305F

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.68839287G>T
cDNA c.914G>T
Protein p.C305F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005268872 chr12:g.68839287G>T c.914G>T p.C305F RefSeq GRCh38/hg38
NM_001367990.1 chr12:g.68839287G>T c.914G>T p.C305F RefSeq GRCh38/hg38
XM_005268872.5 chr12:g.68839287G>T c.914G>T p.C305F 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