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Gene KIT
Variant N822Y
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT N822Y lies within the protein kinase domain of the Kit protein (UniProt.org). N822Y results in constitutive phosphorylation of Kit in culture (PMID: 30094412), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT N822Y

KIT mutant KIT exon17 KIT N822Y

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Transcript NM_000222.3
gDNA chr4:g.54733172A>T
cDNA c.2464A>T
Protein p.N822Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005265741.1 chr4:g.54733172A>T c.2464A>T p.N822Y RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733172A>T c.2464A>T p.N822Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54733172A>T c.2464A>T p.N822Y RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733172A>T c.2464A>T p.N822Y RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733172A>T c.2464A>T p.N822Y RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54733172A>T c.2464A>T p.N822Y 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")

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