We’re improving your experience!

×

Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.

Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.

Stay tuned for these updates, and thank you for being part of our community!

KIT E562_L576del - Gene Variant Detail

Request Content

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@genomenon.com

Gene KIT
Variant E562_L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT E562_L576del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 562 to 576 (PMID: 16226710). E562_L576del 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 E562_L576del

KIT mutant KIT exon11 KIT exon 11 del KIT E562_L576del

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_000222.3
gDNA chr4:g.54727452_54727496del45
cDNA c.1684_1728del45
Protein p.E562_L576del15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54727449_54727493del45 c.1684_1728del45 p.E562_Q576del15 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727461_54727505del45 c.1684_1728del45 p.G562_D576del15 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727466_54727510del45 c.1686_1730del45 p.N562_H576del15 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727452_54727496del45 c.1684_1728del45 p.E562_L576del15 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727452_54727496del45 c.1684_1728del45 p.E562_L576del15 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727466_54727510del45 c.1686_1730del45 p.N562_H576del15 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727452_54727496del45 c.1684_1728del45 p.E562_L576del RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727461_54727505del45 c.1684_1728del45 p.G562_D576del15 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727449_54727493del45 c.1684_1728del45 p.E562_Q576del15 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 E562_L576del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in an 80% pathological response and 23% RECIST response in a patient with a small bowel gastrointestinal stromal tumor harboring KIT E562_L576del (PMID: 35041493; NCT01991379). 35041493