Gene Variant Detail

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Gene KIT
Variant W557G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT W557G lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). W557G results in constitutive phosphorylation of Kit in cell culture (PMID: 23567324), 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 W557G

KIT mutant KIT exon11 KIT W557G

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Transcript NM_000222.3
gDNA chr4:g.54727437T>G
cDNA c.1669T>G
Protein p.W557G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727437T>G c.1669T>G p.W557G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727437T>G c.1669T>G p.W557G RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437T>G c.1669T>G p.W557G RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727437T>G c.1669T>G p.W557G RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727437T>G c.1669T>G p.W557G RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727437T>G c.1669T>G p.W557G 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT W557G extraskeletal myxoid chondrosarcoma predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in stable disease lasting at least 3 years in a patient with extraskeletal myxoid chondrosarcoma harboring KIT W557G (PMID: 34446510). 34446510
KIT W557G Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing KIT W557G in culture (PMID: 23567324). 23567324