Gene Variant Detail

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Gene KIT
Variant D579del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT D579del results in a deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 579 (PMID: 9797363). D579del confers a gain of function on Kit, as indicated by constitutive phosphorylation of Kit, transformation of cultured cells and tumor formation in mice (PMID: 9797363).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT D579del

KIT mutant KIT exon11 KIT exon 11 del KIT D579del

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Transcript NM_000222.3
gDNA chr4:g.54727503_54727505delGAT
cDNA c.1735_1737delGAT
Protein p.D579delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727503_54727505delGAT c.1735_1737delGAT p.D579del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727500_54727502delTAT c.1735_1737delTAT p.Y579delY RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727503_54727505delGAT c.1735_1737delGAT p.D579del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727515_54727517delGAG c.1735_1737delGAG p.E579delE RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727515_54727517delGAG c.1735_1737delGAG p.E579delE RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727503_54727505delGAT c.1735_1737delGAT p.D579del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727500_54727502delTAT c.1735_1737delTAT p.Y579delY RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727503_54727505delGAT c.1735_1737delGAT p.D579del RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727512_54727514delTGG c.1735_1737delTGG p.W579delW RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727512_54727514delTGG c.1735_1737delTGG p.W579delW RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727503_54727505delGAT c.1735_1737delGAT p.D579delD RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727503_54727505delGAT c.1735_1737delGAT p.D579delD RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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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
KIT D579del thymic carcinoma sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with thymic carcinoma harboring KIT D579del achieved disease stabilization following treatment with Gleevec (imatinib) (PMID: 24419427). 24419427