Gene Variant Detail

Gene KIT
Variant Y553S
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT Y553S lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y553S has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18488160), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Mar 2019).
Associated Drug Resistance Y

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Transcript NM_000222
gDNA chr4:g.54727426A>C
cDNA c.1658A>C
Protein p.Y553S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727426A>C c.1658A>C p.Y553S RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727426A>C c.1658A>C p.Y553S 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 Protein Effect Treatment Approaches
KIT Y553S KIT V556_T574del KIT D820Y
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT Y553S KIT V556_T574del KIT D820Y gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820Y was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring primary KIT V569_L576del and KIT Y553S mutations, who developed resistance to Gleevec (imatinib) (PMID: 18488160). 18488160