Gene Variant Detail

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Gene KIT
Variant Q556_K558del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q556_K558del results in the deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 558 (PMID: 16226710). Q556_K558del results in constitutive phosphorylation of Kit in culture (PMID: 30094412), 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_K558del

KIT mutant KIT exon11 KIT exon 11 del KIT Q556_K558del

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Transcript NM_000222.3
gDNA chr4:g.54727434_54727442delCAGTGGAAG
cDNA c.1666_1674delCAGTGGAAG
Protein p.Q556_K558delQWK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008180 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
NM_000222 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries