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Gene KIT
Variant L576_P585dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions KIT L576_P585dup (also referred to as P585_R586insLPYDHKWEFP) indicates the insertion of 10 duplicate amino acids, leucine (L)-576 through proline (P)-585, in the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). L576_P585dup has been identified in sequencing studies (PMID: 26822237), but has not been biochemically characterized 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_P585dup

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Transcript NM_000222.3
gDNA chr4:g.54727494_54727523
cDNA c.1726_1755
Protein p.L576_P585
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727494_54727523 c.1726_1755 p.L576_P585 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727494_54727523 c.1726_1755 p.L576_P585 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727494_54727523 c.1726_1755 p.L576_P585 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727494_54727523 c.1726_1755 p.L576_P585 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727494_54727523 c.1726_1755 p.L576_P585 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727494_54727523 c.1726_1755 p.L576_P585 RefSeq GRCh38/hg38

Filtering

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  • 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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries