KIT T417_D419delinsI
Gene Variant Detail

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Gene KIT
Variant T417_D419delinsI
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions KIT T417_D419delinsI results in the deletion of three amino acids in Ig-like C2-type domain 5 of the Kit protein from amino acids 417 to 419, combined with the insertion of an isoleucine (I) at the same site (UniProt.org). T417_D419delinsI results in ligand-independent dimerization (PMID: 25544564, PMID: 15618474), constitutive activation (PMID: 25544564, PMID: 27482095, PMID: 16015387), decreased cell surface Kit expression, altered degradation (PMID: 27482095), and SCF- and IL3-independent growth in culture (PMID: 27482095, PMID: 15618474).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT T417_D419delinsI

KIT mutant KIT exon8 KIT T417_D419delinsI

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Transcript NM_000222.3
gDNA chr4:g.54723601_54723609delinsATC
cDNA c.1249_1257delinsATC
Protein p.T417_D419delinsI
Source Database RefSeq
Genome Build 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
  • 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.