Gene Variant Detail

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Gene KIT
Variant W557_K558del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions KIT W557_K558del results in the deletion of 2 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 558 (PMID: 12918066). W557_K558del results in constitutive activation of Kit and increased Erk phosphorylation, and leads to increased invasiveness and expression of ETV1 in cell culture (PMID: 25239608, PMID: 26936919).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT W557_K558del

KIT mutant KIT exon11 KIT exon 11 del KIT W557_K558del

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Transcript NM_000222.3
gDNA chr4:g.54727437_54727442delTGGAAG
cDNA c.1669_1674delTGGAAG
Protein p.W557_K558delWK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558del RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727449_54727454delGAGGAG c.1669_1674delGAGGAG p.E557_E558delEE RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558del RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727447_54727452delTTGAGG c.1670_1675delTTGAGG p.V557_E558delVE RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558del RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558delWK RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558delWK RefSeq GRCh38/hg38
NM_000222 chr4:g.54727437_54727442delTGGAAG c.1669_1674delTGGAAG p.W557_K558del RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727449_54727454delGAGGAG c.1669_1674delGAGGAG p.E557_E558delEE RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727434_54727439delCAGTGG c.1669_1674delCAGTGG p.Q557_W558delQW RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727447_54727452delTTGAGG c.1670_1675delTTGAGG p.V557_E558delVE RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727434_54727439delCAGTGG c.1669_1674delCAGTGG p.Q557_W558delQW RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries