Gene Variant Detail

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Gene KIT
Variant V560del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT V560del (also reported as V559del) results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 560 (PMID: 12879016). V560del confers a gain of function to Kit, resulting in constitutive, ligand independent phosphorylation of Kit and activation of Akt in cell culture (PMID: 15236194, PMID: 22282465), and transformation of cultured cells (PMID: 19861435).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT V560del

KIT mutant KIT exon11 KIT exon 11 del KIT V560del

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Transcript NM_000222.2
gDNA chr4:g.54727447_54727449delTTG
cDNA c.1679_1681delTTG
Protein p.V560delV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727447_54727449delTTG c.1679_1681delTTG p.V560delV RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727456_54727458delTAA c.1679_1681delTAA p.I560delI RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727447_54727449delTTG c.1682_1684delTTG p.V561delV RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727458_54727460delAAT c.1678_1680delAAT p.N560delN RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib) inhibited growth of transformed cell lines over expressing KIT V560del in culture (PMID: 19861435). 19861435
KIT V560del Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, Sutent (sunitinib) inhibited growth of transformed cell lines over expressing KIT V560del in culture (PMID: 19861435). 19861435
KIT V560del gastrointestinal stromal tumor sensitive G007-LK + Imatinib Preclinical Actionable In a preclinical study, the combination of G007-LK and Gleevec (imatinib) demonstrated increased anti-tumor activity compared to either agent alone in a mouse model of gastrointestinal stromal tumor expressing Kit V558del (corresponding to human V560del) (PMID: 28611108). 28611108
KIT V560del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a complete response in a patient with gastrointestinal stromal tumor harboring KIT V560del, with a progression-free survival of 33.4 months and an overall survival of 46.8 months (PMID: 18294292). 18294292