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Gene KIT
Variant Q556_L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q556_L576del results in the deletion of 21 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 556 to 576 (PMID: 16226710). Q556_L576del 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 Q556_L576del

KIT mutant KIT exon11 KIT exon 11 del KIT Q556_L576del

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Transcript NM_000222.3
gDNA chr4:g.54727435_54727497del63
cDNA c.1667_1729del63
Protein p.Q556_L576del21
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385284.1 chr4:g.54727431_54727493del63 c.1666_1728del63 p.V556_Q576del21 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727435_54727497del63 c.1667_1729del63 p.Q556_L576del21 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727443_54727505del63 c.1666_1728del63 p.V556_D576del21 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727443_54727505del63 c.1666_1728del63 p.V556_D576del21 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727446_54727508del63 c.1666_1728del63 p.V556_H576del21 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727446_54727508del63 c.1666_1728del63 p.V556_H576del21 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727435_54727497del63 c.1667_1729del63 p.Q556_L576del21 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727435_54727497del63 c.1667_1729del63 p.Q556_L576del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727431_54727493del63 c.1666_1728del63 p.V556_Q576del21 RefSeq GRCh38/hg38

Filtering

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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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References