Gene Variant Detail

Gene KIT
Variant Y578C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y578C lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). Y578C results in constitutive phosphorylation of Kit in cell culture in one study (PMID: 23567324) and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance

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Transcript NM_000222
gDNA chr4:g.54727501A>G
cDNA c.1733A>G
Protein p.Y578C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727501A>G c.1733A>G p.Y578C RefSeq GRCh38/hg38
NM_000222 chr4:g.54727501A>G c.1733A>G p.Y578C 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 W557C KIT Y578C
KIT Y578C gain of function - predicted KIT Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT W557C KIT Y578C Advanced Solid Tumor sensitive Imatinib Preclinical Actionable In a preclinical study, Gleevec (imatinib mesylate) inhibited Kit phosphorylation efficiently in transformed human cells over expressing both KIT W557C and KIT Y578C in culture (PMID: 23567324). 23567324
KIT Y578C 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 Y578C in culture (PMID: 23567324). 23567324