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Gene KIT
Variant L576F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT L576F lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 17372901). L576F has been identified in sequencing studies (PMID: 21325067, PMID: 26774193, PMID: 17145623), 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 L576F

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Transcript NM_000222.3
gDNA chr4:g.54727494C>T
cDNA c.1726C>T
Protein p.L576F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017008178 chr4:g.54727494C>T c.1726C>T p.L576F RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727494C>T c.1726C>T p.L576F RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727494C>T c.1726C>T p.L576F RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727494C>T c.1726C>T p.L576F RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727494C>T c.1726C>T p.L576F RefSeq GRCh38/hg38
NM_000222 chr4:g.54727494C>T c.1726C>T p.L576F 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries