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Gene KIT
Variant R796G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KIT R796G lies within the protein kinase domain of the Kit protein (UniProt.org). R796G confers a loss of function on Kit as indicated by lack of autophosphorylation, loss of ligand-induced phosphorylation of Kit in cultured cells (PMID: 20824047).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon17 KIT R796G

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Transcript NM_000222.3
gDNA chr4:g.54733094A>G
cDNA c.2386A>G
Protein p.R796G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54733094A>G c.2386A>G p.R796G RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733094A>G c.2386A>G p.R796G RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733094A>G c.2386A>G p.R796G RefSeq GRCh38/hg38
NM_000222 chr4:g.54733094A>G c.2386A>G p.R796G RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733094A>G c.2386A>G p.R796G RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733094A>G c.2386A>G p.R796G 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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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries