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 Q556_K558del - 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@genomenon.com

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

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.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_017008180.1 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
XM_017008178 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_005265741.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
XM_017008180 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_017008178.1 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_000222 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727434_54727442delCAGTGGAAG c.1666_1674delCAGTGGAAG p.Q556_K558delQWK RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727431_54727439delGTACAGTGG c.1666_1674delGTACAGTGG p.V556_W558delVQW RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727446_54727454delGTTGAGGAG c.1666_1674delGTTGAGGAG p.V556_E558delVEE RefSeq GRCh38/hg38
NM_001093772.1 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_017008179 chr4:g.54727444_54727452delTTGTTGAGG c.1667_1675delTTGTTGAGG p.V556_E558delVVE 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 Q556_K558del gastric adenocarcinoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in a partial response with tumor shrinkage lasting at least 1 year in a patient with metastatic gastric adenocarcinoma harboring KIT Q556_K558del (PMID: 39298692). 39298692