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Gene KIT
Variant D816_N822delinsMIDSI
Impact List indel
Protein Effect unknown
Gene Variant Descriptions KIT D816_N822delinsMIDSI results in a deletion of seven amino acids in tyrosine kinase domain region 2 (exon 17) of the Kit protein from amino acids 816 to 822, combined with the insertion of five amino acids at the same site (PMID: 17555444). D816_N822delinsMIDSI has been identified in the scientific literature (PMID: 38273969), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT D816_N822delinsMIDSI

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Transcript NM_000222.3
gDNA chr4:g.54733154_54733174delinsATGATCGACAGCATC
cDNA c.2446_2466delinsATGATCGACAGCATC
Protein p.D816_N822delinsMIDSI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54733154_54733174delinsATGATCGACAGCATC c.2446_2466delinsATGATCGACAGCATC p.D816_N822delinsMIDSI RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733154_54733174delinsATGATCGACAGCATC c.2446_2466delinsATGATCGACAGCATC p.D816_N822delinsMIDSI 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
KIT D816_N822delinsMIDSI systemic mastocytosis predicted - sensitive Avapritinib Case Reports/Case Series Actionable In a clinical case study, Ayvakit (avapritinib) treatment resulted in improved symptoms, reduced tryptase levels, and reduced lymphadenopathy in a patient with systemic mastocytosis harboring KIT D816_N822delinsMIDSI (PMID: 38273969). 38273969