Gene Variant Detail

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Gene KIT
Variant M552_V559delinsI
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT M552_V559delinsI results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 559, combined with the insertion of an isoleucine (I) at the same site (PMID: 16226710). M552_V559delinsI 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 M552_V559delinsI

KIT mutant KIT exon11 KIT exon 11 del KIT M552_V559delinsI

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Transcript NM_000222.3
gDNA chr4:g.54727424_54727444del21
cDNA c.1656_1676del21
Protein p.M552_V559delinsI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727424_54727444del21 c.1656_1676del21 p.M552_V559delinsI RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727424_54727444del21 c.1656_1676del21 p.M552_V559delinsI RefSeq GRCh38/hg38
NM_000222 chr4:g.54727424_54727444del21 c.1656_1676del21 p.M552_V559delinsI RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727424_54727444del21 c.1656_1676del21 p.M552_V559delinsI RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727424_54727444del21 c.1656_1676del21 p.M552_V559delinsI RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727424_54727444del21 c.1656_1676del21 p.M552_V559delinsI 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References