Gene Variant Detail

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Gene KIT
Variant W557del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT W557del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acids 557 (PMID: 12918066). W557del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 9797363), 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 W557del

KIT mutant KIT exon11 KIT exon 11 del KIT W557del

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Transcript NM_000222.3
gDNA chr4:g.54727437_54727439delTGG
cDNA c.1669_1671delTGG
Protein p.W557delW
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727437_54727439delTGG c.1669_1671delTGG p.W557delW RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437_54727439delTGG c.1669_1671delTGG p.W557delW RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727447_54727449delTTG c.1670_1672delTTG p.V557delV RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727452_54727454delGAG c.1672_1674delGAG p.E558delE RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727434_54727436delCAG c.1669_1671delCAG p.Q557delQ RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727447_54727449delTTG c.1670_1672delTTG p.V557delV RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727447_54727449delTTG c.1670_1672delTTG p.V557delV RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727452_54727454delGAG c.1672_1674delGAG p.E558delE RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727434_54727436delCAG c.1669_1671delCAG p.Q557delQ RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727452_54727454delGAG c.1672_1674delGAG p.E558delE RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727437_54727439delTGG c.1669_1671delTGG p.W557delW RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727452_54727454delGAG c.1672_1674delGAG p.E558delE RefSeq GRCh38/hg38
NM_000222 chr4:g.54727437_54727439delTGG c.1669_1671delTGG p.W557delW RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727447_54727449delTTG c.1670_1672delTTG p.V557delV RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727452_54727454delGAG c.1672_1674delGAG p.E558delE RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727434_54727436delCAG c.1669_1671delCAG p.Q557delQ RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727452_54727454delGAG c.1672_1674delGAG p.E558delE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727434_54727436delCAG c.1669_1671delCAG p.Q557delQ RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727447_54727449delTTG c.1670_1672delTTG p.V557delV RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727447_54727449delTTG c.1670_1672delTTG p.V557delV RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727437_54727439delTGG c.1669_1671delTGG p.W557delW RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727437_54727439delTGG c.1669_1671delTGG p.W557delW RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727434_54727436delCAG c.1669_1671delCAG p.Q557delQ RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727434_54727436delCAG c.1669_1671delCAG p.Q557delQ RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries