KIT E839K
Gene Variant Detail

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Gene KIT
Variant E839K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions KIT E839K lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 17555444). E839K results in impaired Kit protein maturation, a loss of Kit phosphorylation, and dominant inhibition of activating Kit mutations in cultured cells (PMID: 9990072, PMID: 15790786).
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT exon18 KIT E839K

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Transcript NM_000222.3
gDNA chr4:g.54736528G>A
cDNA c.2515G>A
Protein p.E839K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385290.1 chr4:g.54736528G>A c.2515G>A p.E839K RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54736528G>A c.2515G>A p.E839K RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54736528G>A c.2515G>A p.E839K RefSeq GRCh38/hg38
NM_000222 chr4:g.54736528G>A c.2515G>A p.E839K RefSeq GRCh38/hg38
XM_005265741 chr4:g.54736528G>A c.2515G>A p.E839K RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54736528G>A c.2515G>A p.E839K 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