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Gene KIT
Variant L576_K581dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT L576_K581dup indicates the insertion of six duplicate amino acids, leucine (L)-576 through lysine (K)-581, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_K581dup has not been characterized in the scientific literature and therefore, its effect on Kit protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon11 KIT L576_K581dup

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Transcript NM_000222.3
gDNA chr4:g.54727494_54727511
cDNA c.1726_1743
Protein p.L576_K581
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727494_54727511 c.1726_1743 p.L576_K581dup RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727494_54727511 c.1726_1743 p.L576_K581 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727494_54727511 c.1726_1743 p.L576_K581 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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