Gene Variant Detail

Gene KIT
Variant K558_G565delinsR
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_G565delinsR results in the deletion of 9 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 565, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_G565delinsR results in constitutive phosphorylation of Kit in patient-derived xenograft models in one study (PMID: 25926077) and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54727441_54727461del21
cDNA c.1673_1693del21
Protein p.K558_G565delinsR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
NM_000222 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38

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"

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Molecular Profile Protein Effect Treatment Approaches
KIT K558_G565delinsR gain of function - predicted KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT K558_G565delinsR gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) resulted in tumor regression, decreased mitotic activity, and increased apoptotic activity in a gastrointestinal stromal tumor patient derived xenograft (PDX) model harboring KIT K558_G565delins (PMID: 27777285). 27777285
KIT K558_G565delinsR gastrointestinal stromal tumor sensitive Imatinib Preclinical - Pdx Actionable In a preclinical study, Gleevec (imatinib) treatment resulted in tumor regression and decreased mitotic activity in gastrointestinal stromal tumor patient derived xenograft (PDX) models harboring KIT K558_G565delinsR (PMID: 27777285). 27777285