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Gene KIT
Variant D820N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D820N lies within the protein kinase domain of the Kit protein (UniProt.org). D820N has been identified as a secondary mutation associated with imatinib-resistance (PMID: 18628470), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT exon17 KIT D820N

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Transcript NM_000222.3
gDNA chr4:g.54733166G>A
cDNA c.2458G>A
Protein p.D820N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54733166G>A c.2458G>A p.D820N RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733166G>A c.2458G>A p.D820N RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733166G>A c.2458G>A p.D820N RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733166G>A c.2458G>A p.D820N RefSeq GRCh38/hg38
NM_000222 chr4:g.54733166G>A c.2458G>A p.D820N RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733166G>A c.2458G>A p.D820N 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT D820N gastrointestinal stromal tumor predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical study, KIT D820N was identified as a secondary mutation in the metastatic lesions from a gastrointestinal stromal tumor patient whose disease progressed on Gleevec (imatinib) (PMID: 18628470). 18628470