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Gene JAK3
Variant L875H
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions JAK3 L875H lies within the protein kinase domain 2 of the Jak3 protein (UniProt.org). L875H results in transforming activity in cultured cells (PMID: 29187379) and demonstrates resistance to some JAK inhibitors in culture (PMID: 31976485), and therefore, is predicted to lead to a gain of Jak3 protein function.
Associated Drug Resistance Y

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Transcript NM_000215.3
gDNA chr19:g.17832575A>T
cDNA c.2624T>A
Protein p.L875H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000215.3 chr19:g.17832575A>T c.2624T>A p.L875H RefSeq GRCh38/hg38
NM_000215 chr19:g.17832575A>T c.2624T>A p.L875H 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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  • 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 L875H hematologic cancer predicted - sensitive Tofacitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with Xeljanz (tofacitinib) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer resistant Baricitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated resistance to treatment with Baricitinib (LY3009104) in culture (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer predicted - sensitive Ruxolitinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with Jakafi (ruxolitinib) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer predicted - sensitive Decernotinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with Decernotinib (VX-509) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
JAK3 L875H hematologic cancer predicted - sensitive ASP015K Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing JAK3 L875H demonstrated some sensitivity to treatment with ASP015K (peficitinib) in culture, but were not as sensitive as cells expressing other JAK3 activating mutations (PMID: 31976485). 31976485
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
JAK3 L875H gain of function - predicted