SMARCB1 del
Gene Variant Detail

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Gene SMARCB1
Variant del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions SMARCB1 del indicates a deletion of the SMARCB1 gene, which leads to decreased levels of SWI/SNF subunits, decreased subunit incorporation into chromatin complexes (PMID: 27941797), and hyperactivation of EGFR and MET pathway signaling in cell culture (PMID: 23576573). SMARCB1 deletion has been frequently identified in epitheloid sarcoma (PMID: 23060122).
Associated Drug Resistance
Category Variants Paths

SMARCB1 mutant SMARCB1 inact mut SMARCB1 del

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No Variant Reference Transcript is Available.
No transcript is Available.

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
SMARCB1 del epithelioid sarcoma not applicable N/A Guideline Diagnostic SMARCB1 deletion aids the diagnosis of epithelioid sarcoma (NCCN.org). detail...