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Gene KIT
Variant N822K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N822K lies within the activation loop in the protein kinase domain of the Kit protein (PMID: 24205792). N822K results in constitutive activation of Kit, increased Erk1/2 and Stat3 phosphorylation, is transforming in culture (PMID: 24205792, PMID: 31484543), leads to mislocalization of Kit to endolysosomes (PMID: 31484543), and has been identified as a secondary mutation associated with imatinib resistance (PMID: 18488160).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT N822K

KIT mutant KIT exon17 KIT N822K

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Transcript NM_000222.3
gDNA chr4:g.54733174T>G
cDNA c.2466T>G
Protein p.N822K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38
NM_000222 chr4:g.54733174T>G c.2466T>G p.N822K RefSeq GRCh38/hg38

Filtering

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries