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Gene KIT
Variant P551_E554delinsQ
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT P551_E554delinsQ results in a deletion of four amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 551 to 554, combined with the insertion of a glutamine (Q) at the same site (PMID: 16226710). P551_E554delinsQ 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 P551_E554delinsQ

KIT mutant KIT exon11 KIT exon 11 del KIT P551_E554delinsQ

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Transcript NM_000222.3
gDNA chr4:g.54727420_54727428delCCATGTATG
cDNA c.1652_1660delCCATGTATG
Protein p.P551_E554delinsQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727420_54727428delCCATGTATG c.1652_1660delCCATGTATG p.P551_E554delinsQ RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727420_54727428delCCATGTATG c.1652_1660delCCATGTATG p.P551_E554delinsQ 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References