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Gene KIT
Variant K509I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions KIT K509I lies within the extracellular domain (exon 9) of the Kit protein (UniProt.org). K509I results in constitutive phosphorylation of Kit, increased cell proliferation, and growth factor independent survival in cell culture (PMID: 19865100).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT K509I

KIT mutant KIT exon9 KIT K509I

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Transcript NM_000222.3
gDNA chr4:g.54726036A>T
cDNA c.1526A>T
Protein p.K509I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001093772 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008178 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008180 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54726036A>T c.1526A>T p.K509I RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54726036A>T c.1526A>T p.K509I 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 )
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  • 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