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Gene KIT
Variant W557_Q575del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT W557_Q575del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 575 (PMID: 16226710). W557_Q575del 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 W557_Q575del

KIT mutant KIT exon11 KIT exon 11 del KIT W557_Q575del

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Transcript NM_000222.3
gDNA chr4:g.54727437_54727493del57
cDNA c.1669_1725del57
Protein p.W557_Q575del19
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385292.1 chr4:g.54727447_54727503del57 c.1670_1726del57 p.V557_Y575del19 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727449_54727505del57 c.1669_1725del57 p.E557_D575del19 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727437_54727493del57 c.1669_1725del57 p.W557_Q575del19 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727437_54727493del57 c.1669_1725del57 p.W557_Q575del19 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727436_54727492del57 c.1671_1727del57 p.W558_Q576del19 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727436_54727492del57 c.1671_1727del57 p.W558_Q576del19 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727447_54727503del57 c.1670_1726del57 p.V557_Y575del19 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727437_54727493del57 c.1669_1725del57 p.W557_Q575del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437_54727493del57 c.1669_1725del57 p.W557_Q575del RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727449_54727505del57 c.1669_1725del57 p.E557_D575del19 RefSeq GRCh38/hg38

Filtering

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