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Gene KIT
Variant Q575del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Q575del results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acids 575 (PMID: 16226710). 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 Q575del

KIT mutant KIT exon11 KIT exon 11 del KIT Q575del

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Transcript NM_000222.3
gDNA chr4:g.54727492_54727494delAAC
cDNA c.1724_1726delAAC
Protein p.Q575delQ
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727492_54727494delAAC c.1724_1726delAAC p.Q575delQ RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727503_54727505delGAT c.1723_1725delGAT p.D575delD RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727500_54727502delTAT c.1723_1725delTAT p.Y575delY RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727488_54727490delACA c.1723_1725delACA p.T575delT RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727488_54727490delACA c.1723_1725delACA p.T575delT RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727500_54727502delTAT c.1723_1725delTAT p.Y575delY RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727503_54727505delGAT c.1723_1725delGAT p.D575delD RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727492_54727494delAAC c.1724_1726delAAC p.Q575del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727492_54727494delAAC c.1724_1726delAAC p.Q575delQ RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727492_54727494delAAC c.1724_1726delAAC p.Q575del RefSeq GRCh38/hg38

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