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Gene KIT
Variant M552_E554delinsI
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT M552_E554delinsI results in a deletion of three amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 554, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_E554delinsI has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT M552_E554delinsI

KIT mutant KIT exon11 KIT exon 11 del KIT M552_E554delinsI

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Transcript NM_000222.3
gDNA chr4:g.54727424_54727429delGTATGA
cDNA c.1656_1661delGTATGA
Protein p.M552_E554delinsI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727424_54727429delGTATGA c.1656_1661delGTATGA p.M552_E554delinsI RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727424_54727429delGTATGA c.1656_1661delGTATGA p.M552_E554delinsI RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727424_54727429delGTATGA c.1656_1661delGTATGA p.M552_E554delinsI RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727424_54727429delGTATGA c.1656_1661delGTATGA p.M552_E554delinsI 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.
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Molecular Profile Protein Effect Treatment Approaches
KIT M552_E554delinsI gain of function - predicted KIT Inhibitor