Gene Variant Detail

Gene KIT
Variant V556_T574del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V556_T574del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 574 (PMID: 16226710). V556_T574del has not been characterized, however similar Kit exon 11 deletions are activating, thus V556_T574del is predicted to lead to a gain of Kit protein function (PMID: 9438854, PMID: 15365079).
Associated Drug Resistance

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.

Transcript NM_001093772
gDNA chr4:g.54727447_54727503del57
cDNA c.1667_1723del57
Protein p.V556_Y574del19
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54727443_54727499del57 c.1666_1722del57 p.V556_P574del19 RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727431_54727487del57 c.1666_1722del57 p.V556_P574del19 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727436_54727492del57 c.1668_1724del57 p.W557_Q575del19 RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727443_54727499del57 c.1666_1722del57 p.V556_P574del19 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727436_54727492del57 c.1668_1724del57 p.W557_Q575del19 RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727447_54727503del57 c.1667_1723del57 p.V556_Y574del19 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727447_54727503del57 c.1667_1723del57 p.V556_Y574del19 RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727431_54727487del57 c.1666_1722del57 p.V556_P574del19 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
KIT V556_T574del gain of function - predicted
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