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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 |
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_000222.3 | 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 |
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 | chr4:g.54727441_54727461del21 | c.1673_1693del21 | p.K558_G565delinsR | RefSeq | GRCh38/hg38 |
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 |