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Gene KIT
Variant W557Lfs*5
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions KIT W557Lfs*5 indicates a shift in the reading frame starting at amino acid 557 and terminating 5 residues downstream causing a premature truncation of the 976 amino acid Kit protein (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W557Lfs*5 is predicted to lead to a loss of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT W557Lfs*5

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Transcript NM_000222.3
gDNA chr4:g.54727437dupT
cDNA c.1669dupT
Protein p.W557Lfs*5
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54727437dupT c.1669dupT p.W557Lfs*5 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727436_54727437insC c.1668_1669insC p.W557Lfs*5 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727437dupT c.1669dupT p.W557Lfs*5 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727436_54727437insC c.1668_1669insC p.W557Lfs*5 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727437dupT c.1669dupT p.W557Lfs*5 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727437dupT c.1669dupT p.W557Lfs*5 RefSeq GRCh38/hg38

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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries