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Gene KIT
Variant G565_T574delinsA
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT G565_T574delinsA results in a deletion of ten amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 565 to 574, combined with the insertion of an alanine (A) at the same site (PMID: 16226710). G565_T574delinsA has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT G565_T574delinsA

KIT mutant KIT exon11 KIT exon 11 del KIT G565_T574delinsA

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Transcript NM_000222.3
gDNA chr4:g.54727462_54727488del27
cDNA c.1694_1720del27
Protein p.G565_T574delinsA
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727462_54727488del27 c.1694_1720del27 p.G565_T574delinsA RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727462_54727488del27 c.1694_1720del27 p.G565_T574delinsA RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727462_54727488del27 c.1694_1720del27 p.G565_T574delinsA RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727462_54727488del27 c.1694_1720del27 p.G565_T574delinsA RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727462_54727488del27 c.1694_1720del27 p.G565_T574delinsA RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727462_54727488del27 c.1694_1720del27 p.G565_T574delinsA 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 )
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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