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Gene KIT
Variant Y570_L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y570_L576del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 570 to 576 (PMID: 16226710). Y570_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 Y570_L576del

KIT mutant KIT exon11 KIT exon 11 del KIT Y570_L576del

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Transcript NM_000222.3
gDNA chr4:g.54727476_54727496del21
cDNA c.1708_1728del21
Protein p.Y570_L576delYIDPTQL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727476_54727496del21 c.1708_1728del21 p.Y570_L576delYIDPTQL RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727476_54727496del21 c.1708_1728del21 p.Y570_L576del RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727476_54727496del21 c.1708_1728del21 p.Y570_L576del RefSeq GRCh38/hg38
NM_000222 chr4:g.54727476_54727496del21 c.1708_1728del21 p.Y570_L576del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727476_54727496del21 c.1708_1728del21 p.Y570_L576delYIDPTQL RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727473_54727493del21 c.1708_1728del21 p.V570_Q576delVYIDPTQ RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727489_54727509del21 c.1709_1729del21 p.T570_H576delTQLPYDH RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727476_54727496del21 c.1708_1728del21 p.Y570_L576del RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727486_54727506del21 c.1709_1729del21 p.P570_D576delPTQLPYD RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727489_54727509del21 c.1709_1729del21 p.T570_H576delTQLPYDH RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727486_54727506del21 c.1709_1729del21 p.P570_D576delPTQLPYD RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727473_54727493del21 c.1708_1728del21 p.V570_Q576delVYIDPTQ RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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