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Gene JAK3
Variant E958K
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 E958K lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). E958K confers a gain of function to the Jak3 protein, as demonstrated by increased cytokine receptor complex-dependent activation of Jak3 in cell culture (PMID: 26446793), activation of Stat5, and is transforming in cell culture (PMID: 26206799).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 E958K

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Transcript NM_000215.4
gDNA chr19:g.17831334C>T
cDNA c.2872G>A
Protein p.E958K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.4 chr19:g.17831334C>T c.2872G>A p.E958K RefSeq GRCh38/hg38
XM_047438786.1 chr19:g.17831334C>T c.2872G>A p.E958K RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17831334C>T c.2872G>A p.E958K RefSeq GRCh38/hg38
NM_000215 chr19:g.17831334C>T c.2872G>A p.E958K 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
JAK3 mutant childhood B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in pediatric patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...
JAK3 mutant B-cell acute lymphoblastic leukemia not applicable N/A Guideline Prognostic JAK3 mutations are associated with a poor prognosis in patients with B-cell acute lymphoblastic leukemia (NCCN.org). detail...