Gene Variant Detail

Gene KIT
Variant exon 11 del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT exon 11 (amino acids 550-591) deletions are in-frame deletions within the juxtamembrane domain of the Kit protein (PMID: 26349547). KIT exon 11 deletions are associated with constitutive activation of Kit (PMID: 9438854, PMID: 15365079).
Associated Drug Resistance

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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 Protein Effect Treatment Approaches
KIT exon 11 del gain of function KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT exon 11 del gastrointestinal stromal tumor predicted - sensitive AZD3229 Preclinical - Cell line xenograft Actionable In a preclinical study, AZD3229 inhibited Kit signaling, resulted in tumor regression in cell line xenograft models of gastrointestinal stromal tumor harboring KIT exon 11 deletion mutation (Proceedings of the American Association for Cancer Research, Vol 60, Mar 2019, Abstract #1328). detail...
KIT exon 11 del gastrointestinal stromal tumor predicted - sensitive Imatinib Phase III Actionable In a Phase III trial, gastrointestinal stromal tumor patients harboring KIT exon 11 deletions or indels demonstrated improved improved recurrence-free survival (RFS) with 3-year adjuvant Gleevec (imatinib) treatment (5-year RFS, 70%), compared to patients receiving 1-year treatment (5-year RFS, 41.3%) (PMID: 28334365). 28334365