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Gene KIT
Variant E554K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT E554K lies within the juxtamembrane domain (exon 11) of the Kit protein (PMID: 16226710). E554K has been identified in sequencing studies (PMID: 21642685, PMID: 36948401), 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 E554K

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Transcript NM_000222.3
gDNA chr4:g.54727428G>A
cDNA c.1660G>A
Protein p.E554K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.3 chr4:g.54727428G>A c.1660G>A p.E554K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727428G>A c.1660G>A p.E554K RefSeq GRCh38/hg38
NM_000222 chr4:g.54727428G>A c.1660G>A p.E554K RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727428G>A c.1660G>A p.E554K RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727428G>A c.1660G>A p.E554K RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727428G>A c.1660G>A p.E554K 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References