Gene Variant Detail

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Gene KIT
Variant E490K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions KIT E490K lies within Ig-like C2-type domain 5 (exon 9) of the Kit protein (UniProt.org). E490K has been identified in the scientific literature (PMID: 22357254), 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 exon9 KIT E490K

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Transcript NM_000222.3
gDNA chr4:g.54725978G>A
cDNA c.1468G>A
Protein p.E490K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385286.1 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
XM_017008178 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_001093772 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
XM_017008180 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_000222 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54725978G>A c.1468G>A p.E490K RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54725978G>A c.1468G>A p.E490K 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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Sorting

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