KIT Y553N
Gene Variant Detail

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Gene KIT
Variant Y553N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT Y553N lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553N is predicted to stabilize the active conformation of Kit by structural modeling (PMID: 23588081), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Jul 2025).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT Y553N

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Transcript NM_000222.3
gDNA chr4:g.54727425T>A
cDNA c.1657T>A
Protein p.Y553N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_000222 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727425T>A c.1657T>A p.Y553N RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727425T>A c.1657T>A p.Y553N 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 Y553N thymic carcinoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic thymic carcinoma harboring KIT Y553N demonstrated improved clinical performance and reduction in metastatic lesions following treatment with Gleevec (imatinib) (PMID: 21969494). 21969494