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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 |
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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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