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Gene KIT
Variant H630Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT H630Y lies within the protein kinase domain (exon 13) of the Kit protein (UniProt.org). H630Y has been identified in the scientific literature (PMID: 35804982, PMID: 27027238), 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 exon13 KIT H630Y

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Transcript NM_000222.3
gDNA chr4:g.54728019C>T
cDNA c.1888C>T
Protein p.H630Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385285.1 chr4:g.54728019C>T c.1888C>T p.H630Y RefSeq GRCh38/hg38
NM_000222 chr4:g.54728019C>T c.1888C>T p.H630Y RefSeq GRCh38/hg38
XM_017008178 chr4:g.54728019C>T c.1888C>T p.H630Y RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54728019C>T c.1888C>T p.H630Y RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54728019C>T c.1888C>T p.H630Y RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54728019C>T c.1888C>T p.H630Y 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