Gene Variant Detail

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Gene KIT
Variant V559_V560del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT V559_V560del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 560 (UniProt.org). V559_V560del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, is transforming in cell culture, and promotes tumor formation in mice (PMID: 9797363).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT V559_V560del

KIT mutant KIT exon11 KIT exon 11 del KIT V559_V560del

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Transcript NM_000222.3
gDNA chr4:g.54727444_54727449delTTGTTG
cDNA c.1676_1681delTTGTTG
Protein p.V559_V560delVV
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727444_54727449delTTGTTG c.1676_1681delTTGTTG p.V559_V560del RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727452_54727457delGAGATA c.1675_1680delGAGATA p.E559_I560delEI RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727444_54727449delTTGTTG c.1676_1681delTTGTTG p.V559_V560del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727444_54727449delTTGTTG c.1676_1681delTTGTTG p.V559_V560delVV RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727455_54727460delATAAAT c.1675_1680delATAAAT p.I559_N560delIN RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727444_54727449delTTGTTG c.1676_1681delTTGTTG p.V559_V560del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727440_54727445delAAGGTT c.1675_1680delAAGGTT p.K559_V560delKV RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727440_54727445delAAGGTT c.1675_1680delAAGGTT p.K559_V560delKV RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727444_54727449delTTGTTG c.1676_1681delTTGTTG p.V559_V560delVV RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727455_54727460delATAAAT c.1675_1680delATAAAT p.I559_N560delIN RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727452_54727457delGAGATA c.1675_1680delGAGATA p.E559_I560delEI RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727444_54727449delTTGTTG c.1676_1681delTTGTTG p.V559_V560del 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT V559_V560del Advanced Solid Tumor sensitive Sunitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Sutent (sunitinib), demonstrating decreased cell proliferation in culture (PMID: 24205792). 24205792
KIT V559_V560del Advanced Solid Tumor sensitive Imatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Gleevec (imatinib), demonstrating decreased cell proliferation in culture (PMID: 24205792). 24205792
KIT V559_V560del Advanced Solid Tumor sensitive Flumatinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT V559_V560del were sensitive to Flumatinib, demonstrating decreased cell proliferation in culture (PMID: 24205792). 24205792