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Gene KIT
Variant D820Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT D820Y lies within the protein kinase domain of the Kit protein (UniProt.org). D820Y results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 19035443, PMID: 11984533), and has also been identified as a secondary drug mutation associated with imatinib resistance (PMID: 18488160).
Associated Drug Resistance Y
Category Variants Paths

KIT mutant KIT act mut KIT D820Y

KIT mutant KIT exon17 KIT D820Y

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Transcript NM_000222.3
gDNA chr4:g.54733166G>T
cDNA c.2458G>T
Protein p.D820Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
XM_005265741 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54733166G>T c.2458G>T p.D820Y RefSeq GRCh38/hg38

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  • 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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  • 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
NCT01028222 Phase II Nilotinib A Study of AMNN107 in the Treatment of Metastatic and/or Inoperable Melanoma Harboring a c-Kit Mutation Completed USA | SWE | NLD | ITA | ESP | DEU | CHE | CAN | BRA | BEL | AUS | ARG 2