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Gene KIT
Variant Y568_T574del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y568_T574del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 568 to 574 (PMID: 16226710). Y568_T574del 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 Y568_T574del

KIT mutant KIT exon11 KIT exon 11 del KIT Y568_T574del

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Transcript NM_000222.3
gDNA chr4:g.54727470_54727490del21
cDNA c.1702_1722del21
Protein p.Y568_T574delYVYIDPT
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54727468_54727488del21 c.1703_1723del21 p.N568_P574delNYVYIDP RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727484_54727504del21 c.1704_1724del21 p.P569_D575delPTQLPYD RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727470_54727490del21 c.1702_1722del21 p.Y568_T574del RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727470_54727490del21 c.1702_1722del21 p.Y568_T574delYVYIDPT RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727470_54727490del21 c.1702_1722del21 p.Y568_T574del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727468_54727488del21 c.1703_1723del21 p.N568_P574delNYVYIDP RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727470_54727490del21 c.1702_1722del21 p.Y568_T574del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727470_54727490del21 c.1702_1722del21 p.Y568_T574delYVYIDPT RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727479_54727499del21 c.1702_1722del21 p.I568_P574delIDPTQLP RefSeq GRCh38/hg38
NM_000222 chr4:g.54727470_54727490del21 c.1702_1722del21 p.Y568_T574del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727484_54727504del21 c.1704_1724del21 p.P569_D575delPTQLPYD RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727479_54727499del21 c.1702_1722del21 p.I568_P574delIDPTQLP RefSeq GRCh38/hg38

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Sorting

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