Gene Variant Detail

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Gene KIT
Variant K558_G565delinsR
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_G565delinsR results in a deletion of nine 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 (PDX) models (PMID: 25926077), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT K558_G565delinsR

KIT mutant KIT exon11 KIT exon 11 del KIT K558_G565delinsR

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Transcript NM_000222.3
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_000222.2 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
NM_000222.3 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
NM_001385285.1 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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
KIT K558_G565delinsR gastrointestinal stromal tumor sensitive Cabozantinib Preclinical - Pdx Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) treatment resulted in tumor regression, decreased mitotic activity, and increased apoptotic activity in a gastrointestinal stromal tumor patient-derived xenograft (PDX) model harboring KIT K558_G565delinsR (PMID: 27777285). 27777285