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Gene JAK3
Variant P132A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK3 P132A lies within the FERM domain of the Jak3 protein (UniProt.org). P132A demonstrates phosphorylation of Jak3, Stat5, and Erk to similar levels of wild-type Jak3, and is not transforming in culture, however, promotes tumor formation in mouse models (PMID: 21599579), and therefore, its effect on Jak3 protein function is unknown.
Associated Drug Resistance

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Transcript NM_000215.3
gDNA chr19:g.17843406G>C
cDNA c.394C>G
Protein p.P132A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17843406G>C c.394C>G p.P132A RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17843406G>C c.394C>G p.P132A 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 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...