Gene Variant Detail

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Gene JAK3
Variant M511I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions JAK3 M511I does not lie within any known functional domains of the Jak3 protein (UniProt.org). M511I results in increased phosphorylation of Jak3, activation of Stat5 and Erk signaling, enhanced tumor growth in animal models, and is transforming in cell culture (PMID: 25193870, PMID: 28852199, PMID: 20400977, PMID: 29046866).
Associated Drug Resistance

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Transcript NM_000215.3
gDNA chr19:g.17838299C>G
cDNA c.1533G>C
Protein p.M511I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215 chr19:g.17838299C>G c.1533G>C p.M511I RefSeq GRCh38/hg38
NM_000215.3 chr19:g.17838299C>G c.1533G>C p.M511I 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
JAK3 M511I hematologic cancer sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I hematologic cancer sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, Xeljanz (tofacitinib, CP-690,550) decreased cell viability in transformed mouse Ba/F3 cells expressing Jak3 M511I (PMID: 29046866). 29046866
JAK3 M511I hematologic cancer sensitive Baricitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with Baricitinib (LY3009104) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I hematologic cancer sensitive ASP015K Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with ASP015K (peficitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
JAK3 M511I hematologic cancer sensitive Decernotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 M511I were sensitive to treatment with Decernotinib (VX-509) in culture, demonstrating decreased cell proliferation (PMID: 31976485). 31976485
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References