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Gene KIT
Variant Q556_W557del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q556_W557del results in the deletion of two amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 557 (PMID: 16226710). Q556_W557del 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 Q556_W557del

KIT mutant KIT exon11 KIT exon 11 del KIT Q556_W557del

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Transcript NM_000222.3
gDNA chr4:g.54727434_54727439delCAGTGG
cDNA c.1666_1671delCAGTGG
Protein p.Q556_W557delQW
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727434_54727439delCAGTGG c.1666_1671delCAGTGG p.Q556_W557delQW RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727447_54727452delTTGAGG c.1667_1672delTTGAGG p.V556_E557delVE RefSeq GRCh38/hg38
NM_000222 chr4:g.54727434_54727439delCAGTGG c.1666_1671delCAGTGG p.Q556_W557delQW RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727431_54727436delGTACAG c.1666_1671delGTACAG p.V556_Q557delVQ RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727434_54727439delCAGTGG c.1666_1671delCAGTGG p.Q556_W557delQW RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727444_54727449delTTGTTG c.1667_1672delTTGTTG p.V556_V557delVV RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727447_54727452delTTGAGG c.1667_1672delTTGAGG p.V556_E557delVE RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727434_54727439delCAGTGG c.1666_1671delCAGTGG p.Q556_W557delQW RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727431_54727436delGTACAG c.1666_1671delGTACAG p.V556_Q557delVQ RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727447_54727452delTTGAGG c.1667_1672delTTGAGG p.V556_E557delVE RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727431_54727436delGTACAG c.1666_1671delGTACAG p.V556_Q557delVQ RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727434_54727439delCAGTGG c.1666_1671delCAGTGG p.Q556_W557delQW RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727444_54727449delTTGTTG c.1667_1672delTTGTTG p.V556_V557delVV RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727444_54727449delTTGTTG c.1667_1672delTTGTTG p.V556_V557delVV RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727447_54727452delTTGAGG c.1667_1672delTTGAGG p.V556_E557delVE RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727434_54727439delCAGTGG c.1666_1671delCAGTGG p.Q556_W557delQW RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727431_54727436delGTACAG c.1666_1671delGTACAG p.V556_Q557delVQ RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727431_54727436delGTACAG c.1666_1671delGTACAG p.V556_Q557delVQ RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727444_54727449delTTGTTG c.1667_1672delTTGTTG p.V556_V557delVV RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727444_54727449delTTGTTG c.1667_1672delTTGTTG p.V556_V557delVV RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727444_54727449delTTGTTG c.1667_1672delTTGTTG p.V556_V557delVV RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727447_54727452delTTGAGG c.1667_1672delTTGAGG p.V556_E557delVE RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727431_54727436delGTACAG c.1666_1671delGTACAG p.V556_Q557delVQ RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727447_54727452delTTGAGG c.1667_1672delTTGAGG p.V556_E557delVE 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT Q556_W557del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resutled in a partial response in a patient with gastrointestinal stromal tumor harboring KIT Q556_W557del , with a progression-free survival of 26.8 months and an overall survival of 47 months (PMID: 18294292). 18294292