Gene Variant Detail

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Gene KIT
Variant K558_G565delinsR
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT K558_G565delinsR results in a deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 558 to 565, combined with the insertion of an arginine (R) at the same site (PMID: 16226710). K558_G565delinsR results in constitutive phosphorylation of Kit in patient-derived xenograft (PDX) models (PMID: 25926077), 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 K558_G565delinsR

KIT mutant KIT exon11 KIT exon 11 del KIT K558_G565delinsR

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Transcript NM_000222.3
gDNA chr4:g.54727441_54727461del21
cDNA c.1673_1693del21
Protein p.K558_G565delinsR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
NM_000222 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727441_54727461del21 c.1673_1693del21 p.K558_G565delinsR 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