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Gene KIT
Variant V559_N566delinsD
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V559_N566delinsD results in a deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 566, combined with the insertion of an aspartic acid (D) at the same site (PMID: 16226710). V559_N566delinsD has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), 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 exon 11 del KIT V559_N566delinsD

KIT mutant KIT exon11 KIT exon 11 del KIT V559_N566delinsD

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Transcript NM_000222.3
gDNA chr4:g.54727444_54727464del21
cDNA c.1676_1696del21
Protein p.V559_N566delinsD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727444_54727464del21 c.1676_1696del21 p.V559_N566delinsD RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727444_54727464del21 c.1676_1696del21 p.V559_N566delinsD RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727444_54727464del21 c.1676_1696del21 p.V559_N566delinsD RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727444_54727464del21 c.1676_1696del21 p.V559_N566delinsD 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