KIT N822I
Gene Variant Detail

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Gene KIT
Variant N822I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT N822I lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). N822I results in constitutive Kit phosphorylation, is transforming in cell culture, and confers resistance to imatinib (PMID: 21689725).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT N822I

KIT mutant KIT exon17 KIT N822I

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Transcript NM_000222.3
gDNA chr4:g.54733173A>T
cDNA c.2465A>T
Protein p.N822I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733173A>T c.2465A>T p.N822I RefSeq GRCh38/hg38

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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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries