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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 |
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 |
---|---|---|---|---|---|
NM_000215 | 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 |
NM_000215.4 | chr19:g.17832629A>T | c.2570T>A | p.L857Q | RefSeq | GRCh38/hg38 |
XM_047438786.1 | chr19:g.17832629A>T | c.2570T>A | p.L857Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
JAK3 L857Q | hematologic cancer | sensitive | Ruxolitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Jakafi (ruxolitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). | 31976485 |
JAK3 L857Q | hematologic cancer | sensitive | Tofacitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Xeljanz (tofacitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). | 31976485 |
JAK3 L857Q | hematologic cancer | sensitive | Baricitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Baricitinib (LY3009104) in culture, demonstrating decreased cell proliferation (PMID: 31976485). | 31976485 |
JAK3 L857Q | hematologic cancer | sensitive | Decernotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Decernotinib (VX-509) in culture, demonstrating decreased cell proliferation (PMID: 31976485). | 31976485 |
JAK3 L857Q | hematologic cancer | sensitive | ASP015K | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with ASP015K (peficitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). | 31976485 |
JAK3 L857Q | hematologic cancer | sensitive | Upadacitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing JAK3 L857Q were sensitive to treatment with Rinvoq (upadacitinib) in culture, demonstrating decreased cell proliferation (PMID: 31976485). | 31976485 |