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Gene KIT
Variant D816E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT D816E lies within the protein kinase domain of the Kit protein (UniProt.org). D816E has been identified in the scientific literature (PMID: 29100343, PMID: 29093181) 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 D816X KIT D816E

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Transcript NM_000222.3
gDNA chr4:g.54733156C>G
cDNA c.2448C>G
Protein p.D816E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008179 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_000222 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_001093772 chr4:g.54733168T>G c.2448T>G p.D816E RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733156C>G c.2448C>G p.D816E RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733156C>G c.2448C>G p.D816E 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 )
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Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries