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Gene KIT
Variant E561K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT E561K lies within the cytoplasmic domain of the Kit protein (UniProt.org). E561K has been identified in sequencing studies (PMID: 16770100, PMID: 29719410, PMID: 36824323), 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 E561K

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Transcript NM_000222.3
gDNA chr4:g.54727449G>A
cDNA c.1681G>A
Protein p.E561K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54727449G>A c.1681G>A p.E561K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727449G>A c.1681G>A p.E561K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727449G>A c.1681G>A p.E561K RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727449G>A c.1681G>A p.E561K RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727449G>A c.1681G>A p.E561K RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727449G>A c.1681G>A p.E561K RefSeq GRCh38/hg38

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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")

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