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Gene KIT
Variant V560_L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V560_L576del results in the deletion of 17 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 560 to 576 (PMID: 16226710). V560_L576del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), 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 V560_L576del

KIT mutant KIT exon11 KIT exon 11 del KIT V560_L576del

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Transcript NM_000222.3
gDNA chr4:g.54727446_54727496del51
cDNA c.1678_1728del51
Protein p.V560_L576del17
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179.1 chr4:g.54727455_54727505del51 c.1678_1728del51 p.I560_D576del17 RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727455_54727505del51 c.1678_1728del51 p.I560_D576del17 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727455_54727505del51 c.1678_1728del51 p.I560_D576del17 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727446_54727496del51 c.1678_1728del51 p.V560_L576del17 RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727443_54727493del51 c.1678_1728del51 p.V560_Q576del17 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727455_54727505del51 c.1678_1728del51 p.I560_D576del17 RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727443_54727493del51 c.1678_1728del51 p.V560_Q576del17 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727446_54727496del51 c.1678_1728del51 p.V560_L576del17 RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727443_54727493del51 c.1678_1728del51 p.V560_Q576del17 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727460_54727510del51 c.1680_1730del51 p.N560_H576del17 RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727455_54727505del51 c.1678_1728del51 p.I560_D576del17 RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727443_54727493del51 c.1678_1728del51 p.V560_Q576del17 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727446_54727496del51 c.1678_1728del51 p.V560_L576del17 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727446_54727496del51 c.1678_1728del51 p.V560_L576del17 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727460_54727510del51 c.1680_1730del51 p.N560_H576del17 RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727460_54727510del51 c.1680_1730del51 p.N560_H576del17 RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727460_54727510del51 c.1680_1730del51 p.N560_H576del17 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727443_54727493del51 c.1678_1728del51 p.V560_Q576del17 RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727460_54727510del51 c.1680_1730del51 p.N560_H576del17 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727460_54727510del51 c.1680_1730del51 p.N560_H576del17 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727443_54727493del51 c.1678_1728del51 p.V560_Q576del17 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727446_54727496del51 c.1678_1728del51 p.V560_L576del17 RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727455_54727505del51 c.1678_1728del51 p.I560_D576del17 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727446_54727496del51 c.1678_1728del51 p.V560_L576del17 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, a patient derived GIST cell line co-harboring KIT V560_L576del and KIT V654A demonstrated sensitivity to treatment with Sutent (sunitinib) (PMID: 25239608). 25239608
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Sunitinib Preclinical - Pdx Actionable In a preclinical study, Sutent (sunitinib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) (PMID: 33579785). 33579785
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive HQP1351 Preclinical - Cell line xenograft Actionable In a preclinical study, HQP1351 treatment inhibited Kit downstream signalling, resulted in cell cycle arrest and apoptosis in a Gleevec (imatinib)-resistant gastrointestinal stromal tumor (GIST) cell line harboring KIT V560_L576del and V654A in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 31673329). 31673329
KIT V560_L576del KIT V654A gastrointestinal stromal tumor resistant Imatinib Preclinical - Pdx Actionable In a preclinical study, a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) demonstrated resistance to treatment with Gleevec (imatinib) (PMID: 33579785). 33579785
KIT V560_L576del KIT V654A gastrointestinal stromal tumor sensitive Regorafenib Preclinical - Pdx Actionable In a preclinical study, Stivarga (regorafenib) inhibited tumor growth in a patient-derived xenograft (PDX) model of gastrointestinal stromal tumor harboring KIT V560_L576del and V654A with overexpression of GPR20 (IHC score 3+) (PMID: 33579785). 33579785