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 W557_K558del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT W557_K558del results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558 (PMID: 12918066). W557_K558del results in constitutive activation of Kit and increased Erk phosphorylation, and leads to increased invasiveness and expression of ETV1 in cell culture (PMID: 25239608, PMID: 26936919).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT W557_K558del

KIT mutant KIT exon11 KIT exon 11 del KIT W557_K558del

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.54727437_54727442delTGGAAG
cDNA c.1669_1674delTGGAAG
Protein p.W557_K558delWK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54727434_54727439delCAGTGG c.1669_1674delCAGTGG p.Q557_W558delQW RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727449_54727454delGAGGAG c.1669_1674delGAGGAG p.E557_E558delEE RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727447_54727452delTTGAGG c.1670_1675delTTGAGG p.V557_E558delVE RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727449_54727454delGAGGAG c.1669_1674delGAGGAG p.E557_E558delEE RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727447_54727452delTTGAGG c.1670_1675delTTGAGG p.V557_E558delVE RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727447_54727452delTTGAGG c.1670_1675delTTGAGG p.V557_E558delVE RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727449_54727454delGAGGAG c.1669_1674delGAGGAG p.E557_E558delEE RefSeq GRCh38/hg38
NM_000222 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558delWK RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727449_54727454delGAGGAG c.1669_1674delGAGGAG p.E557_E558delEE RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727434_54727439delCAGTGG c.1669_1674delCAGTGG p.Q557_W558delQW RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727434_54727439delCAGTGG c.1669_1674delCAGTGG p.Q557_W558delQW RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558delWK RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558delWK RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727447_54727452delTTGAGG c.1670_1675delTTGAGG p.V557_E558delVE RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558delWK RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727434_54727439delCAGTGG c.1669_1674delCAGTGG p.Q557_W558delQW RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 W557_K558del Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell line xenograft Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Iclusig (ponatinib) in both culture and cell line xenograft models, resulting in reduced cell viability and near complete tumor regression (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Sunitinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Sutent (sunitinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Gleevec (imatinib) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT W557_K558del Advanced Solid Tumor sensitive Regorafenib Preclinical Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to treatment with Stivarga (regorafineb) in culture, resulting in reduced cell viability (PMID: 25239608). 25239608
KIT W557_K558del gastrointestinal stromal tumor sensitive PD-0325901 Preclinical - Cell culture Actionable In a preclinical study, PD-0325901 treatment inhibited Erk phosphorylation and decreased expression of ETV1 and CXCR4 in gastrointestinal stromal tumor cells harboring KIT W557_K558del (PMID: 26936919). 26936919
KIT W557_K558del Advanced Solid Tumor sensitive Nilotinib Preclinical - Cell culture Actionable In a preclinical study, Tasigna (nilotinib) inhibited growth of transformed cells expressing KIT W557_K558del in culture (PMID: 17699867). 17699867
KIT W557_K558del Advanced Solid Tumor sensitive Dasatinib Preclinical - Cell culture Actionable In a preclinical study, Sprycel (dasatinib) inhibited growth and induced apoptosis of transformed cells expressing KIT W557_K558del in culture (PMID: 17699867). 17699867
KIT W557_K558del Advanced Solid Tumor sensitive AZD3229 Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing KIT W557_K558del demonstrated sensitivity to AZD3229 in culture, resulting in reduced cell viability (PMID: 32350132). 32350132
KIT W557_K558del Advanced Solid Tumor sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT W557_K558del Advanced Solid Tumor sensitive Ripretinib Preclinical - Cell culture Actionable In a preclinical study, Qinlock (ripretinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture, but was less potent compared to treatment with AZD3229 (PMID: 32350132). 32350132
KIT W557_K558del Advanced Solid Tumor sensitive Cabozantinib Preclinical - Cell culture Actionable In a preclinical study, Cometriq (Cabometyx, cabozantinib) treatment resulted in decreased viability of transformed cells expressing KIT W557_K558del in culture (PMID: 33212994). 33212994
KIT W557_K558del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in 4 partial responses and 1 stable disease in 5 patients with gastrointestinal stromal tumors harboring KIT W557_K558del, with progression-free survival ranging from 12.2 to 36.5 months and overall survival ranging from 22.7 to 67.9 months (PMID: 18294292). 18294292