Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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 exon11 KIT exon 11 del KIT E554_K558del

KIT mutant KIT act mut KIT exon 11 del KIT E554_K558del

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

  • 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
  • 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.

Transcript NM_000222.2
gDNA chr4:g.54727429_54727443del15
cDNA c.1661_1675del15
Protein p.E554_K558delEVQWK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265742 chr4:g.54727437_54727451del15 c.1660_1674del15 p.W554_E558delWKVVE RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727425_54727439del15 c.1660_1674del15 p.Y554_W558delYEVQW RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558delEVQWK RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727437_54727451del15 c.1660_1674del15 p.W554_E558delWKVVE RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727425_54727439del15 c.1660_1674del15 p.Y554_W558delYEVQW RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727441_54727455del15 c.1661_1675del15 p.K554_E558delKVVEE RefSeq GRCh38/hg38
NM_000222 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558delEVQWK RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727441_54727455del15 c.1661_1675del15 p.K554_E558delKVVEE RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727425_54727439del15 c.1660_1674del15 p.Y554_W558delYEVQW RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727441_54727455del15 c.1661_1675del15 p.K554_E558delKVVEE RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727437_54727451del15 c.1660_1674del15 p.W554_E558delWKVVE RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727437_54727451del15 c.1660_1674del15 p.W554_E558delWKVVE RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727425_54727439del15 c.1660_1674del15 p.Y554_W558delYEVQW RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558delEVQWK RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727441_54727455del15 c.1661_1675del15 p.K554_E558delKVVEE RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727429_54727443del15 c.1661_1675del15 p.E554_K558delEVQWK 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

  • 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
  • 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT E554_K558del KIT V654A gastrointestinal stromal tumor predicted - resistant Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, KIT V654A was identified as a secondary resistance mutation in a patient with a gastrointestinal stromal tumor harboring a primary KIT E562_L576del mutation who developed resistance to Gleevec (imatinib) and Mektovi (binimetinib) treatment (PMID: 35041493; NCT01991379). 35041493