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Gene KIT
Variant F522C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT F522C lies within the transmembrane domain of the Kit protein (PMID: 15070706). F522C results in ligand independent autophosphorylation of Kit in cell culture (PMID: 15070706), 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 F522C

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Transcript NM_000222.3
gDNA chr4:g.54727242T>G
cDNA c.1565T>G
Protein p.F522C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727242T>G c.1565T>G p.F522C RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727242T>G c.1565T>G p.F522C RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727242T>G c.1565T>G p.F522C RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727242T>G c.1565T>G p.F522C RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727242T>G c.1565T>G p.F522C RefSeq GRCh38/hg38
NM_000222 chr4:g.54727242T>G c.1565T>G p.F522C 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 F522C systemic mastocytosis sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in symptom and pathologic improvements in a patient with systemic mastocytosis harboring germline KIT F522C and inhibited growth of primary bone marrow cells derived from the patient in culture (PMID: 15070706). 15070706