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Gene KIT
Variant V559_P573del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V559_P573del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 573 (PMID: 16226710). V559_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 V559_P573del

KIT mutant KIT exon11 KIT exon 11 del KIT V559_P573del

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Transcript NM_000222.3
gDNA chr4:g.54727443_54727487del45
cDNA c.1675_1719del45
Protein p.V559_P573del15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54727440_54727484del45 c.1675_1719del45 p.K559_D573del15 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727455_54727499del45 c.1675_1719del45 p.I559_P573del15 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727452_54727496del45 c.1675_1719del45 p.E559_L573del15 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727443_54727487del45 c.1675_1719del45 p.V559_P573del RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727443_54727487del45 c.1675_1719del45 p.V559_P573del15 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727440_54727484del45 c.1675_1719del45 p.K559_D573del15 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727443_54727487del45 c.1675_1719del45 p.V559_P573del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727455_54727499del45 c.1675_1719del45 p.I559_P573del15 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727452_54727496del45 c.1675_1719del45 p.E559_L573del15 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727443_54727487del45 c.1675_1719del45 p.V559_P573del15 RefSeq GRCh38/hg38

Filtering

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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