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Gene JAK3
Variant E694fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions JAK3 E694fs results in a change in the amino acid sequence of the Jak3 protein beginning at aa 694 of 1124, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the protein kinase 1 domain and the entire protein kinase 2 domain (UniProt.org), E694fs is predicted to lead to a loss of Jak3 protein function.
Associated Drug Resistance

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Transcript NM_000215.3
gDNA chr19:g.(17834971_17834972)
cDNA c.(2080_2079)
Protein p.E694fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17834972_17834973insT c.2078_2079insA p.E694fs*10 RefSeq GRCh38/hg38
NM_000215.3 chr19:g.(17834971_17834972) c.(2080_2079) p.E694fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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...
Molecular Profile Protein Effect Treatment Approaches
JAK3 E694fs loss of function - predicted