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Gene JAK3
Variant L857Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 L857Q lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). L857Q results in constitutive phosphorylation of Jak3, activation of Stat5 and Erk signaling, hyperplasia in animal models, and is transforming in cell culture (PMID: 25193870, PMID: 28852199).
Associated Drug Resistance
Category Variants Paths

JAK3 mutant JAK3 act mut JAK3 L857Q

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Transcript NM_000215.4
gDNA chr19:g.17832629A>T
cDNA c.2570T>A
Protein p.L857Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047438786.1 chr19:g.17832629A>T c.2570T>A p.L857Q RefSeq GRCh38/hg38
NM_000215 chr19:g.17832629A>T c.2570T>A p.L857Q RefSeq GRCh38/hg38
NM_000215.4 chr19:g.17832629A>T c.2570T>A p.L857Q RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17832629A>T c.2570T>A p.L857Q RefSeq GRCh38/hg38

Filtering

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  • 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
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...
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...