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Gene KIT
Variant N566_P573del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT N566_P573del results in the deletion of eight amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 566 to 573 (PMID: 16226710). N566_P573del 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 N566_P573del

KIT mutant KIT exon11 KIT exon 11 del KIT N566_P573del

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Transcript NM_000222.3
gDNA chr4:g.54727465_54727488del24
cDNA c.1697_1720del24
Protein p.N566_P573delNNYVYIDP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573del RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727461_54727484del24 c.1696_1719del24 p.G566_D573delGNNYVYID RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727473_54727496del24 c.1696_1719del24 p.V566_L573delVYIDPTQL RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573delNNYVYIDP RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727465_54727488del24 c.1697_1720del24 p.N566_P573delNNYVYIDP RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727478_54727501del24 c.1698_1721del24 p.I567_Y574delIDPTQLPY RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727461_54727484del24 c.1696_1719del24 p.G566_D573delGNNYVYID RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727478_54727501del24 c.1698_1721del24 p.I567_Y574delIDPTQLPY RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727473_54727496del24 c.1696_1719del24 p.V566_L573delVYIDPTQL 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