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Gene KIT
Variant I748D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT I748D lies within the protein kinase domain of the Kit protein (UniProt.org). I748D is associated with resistance to KIT inhibitors (PMID: 38408285), 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 I748D

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Transcript NM_000222.3
gDNA chr4:g.54731879_54731881delATAinsGAC
cDNA c.2242_2244delATAinsGAC
Protein p.I748D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54731879_54731881delATAinsGAC c.2242_2244delATAinsGAC p.I748D RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54731879_54731881delATAinsGAC c.2242_2244delATAinsGAC p.I748D 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")

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