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Gene KIT
Variant V559_G565del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT V559_G565del results in the deletion of seven amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 559 to 565 (PMID: 12879016). V559_G565del 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 exon11 KIT exon 11 del KIT V559_G565del

KIT mutant KIT act mut KIT exon 11 del KIT V559_G565del

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Transcript NM_000222.3
gDNA chr4:g.54727443_54727463del21
cDNA c.1675_1695del21
Protein p.V559_G565delVVEEING
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385292.1 chr4:g.54727453_54727473del21 c.1676_1696del21 p.E559_Y565delEINGNNY RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727455_54727475del21 c.1675_1695del21 p.I559_V565delINGNNYV RefSeq GRCh38/hg38
NM_000222 chr4:g.54727443_54727463del21 c.1675_1695del21 p.V559_G565del RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727453_54727473del21 c.1676_1696del21 p.E559_Y565delEINGNNY RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727443_54727463del21 c.1675_1695del21 p.V559_G565delVVEEING RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727443_54727463del21 c.1675_1695del21 p.V559_G565del RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727440_54727460del21 c.1675_1695del21 p.K559_N565delKVVEEIN RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727443_54727463del21 c.1675_1695del21 p.V559_G565delVVEEING RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727455_54727475del21 c.1675_1695del21 p.I559_V565delINGNNYV RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727443_54727463del21 c.1675_1695del21 p.V559_G565del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727440_54727460del21 c.1675_1695del21 p.K559_N565delKVVEEIN RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727443_54727463del21 c.1675_1695del21 p.V559_G565del 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