KIT E554_K558del
Gene Variant Detail

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Gene KIT
Variant E554_K558del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT E554_K558del results in the deletion of five amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 554 to 558 (PMID: 16226710). E554_K558del 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 E554_K558del

KIT mutant KIT exon11 KIT exon 11 del KIT E554_K558del

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Transcript NM_000222.3
gDNA chr4:g.54727429_54727443del15
cDNA c.1661_1675del15
Protein p.E554_K558del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558del RefSeq GRCh38/hg38
NM_000222 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558del RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558del RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558del 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT E554_K558del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment had manageable toxicity and resulted in a 99% pathological response and 29% RECIST response in a patient with a rectal gastrointestinal stromal tumor harboring KIT E554_K558del (PMID: 35041493; NCT01991379). 35041493