Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.L857P
Back to variants list

JAK3

NM_000215.4:p.L857P

Associated Papers

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Genetic evolution and relapse-associated mutations in adult T-cell acute lymphoblastic leukemia patients treated in PETHEMA trials.

González-Gil C et al.

Hemasphere, 2025

40420999 (PubMed )
Supplement: HEM3-9-e70148-s007.xlsx › SNV

PIM1 is a potential therapeutic target for the leukemogenic effects mediated by JAK/STAT pathway mutations in T-ALL/LBL.

Lahera A et al.

Npj Precision Oncology, 2024

39033228 (PubMed )
Supplement: 41698_2024_638_MOESM1_ESM.pdf

Janus Kinase 3 (JAK3): A Critical Conserved Node in Immunity Disrupted in Immune Cell Cancer and Immunodeficiency.

Liongue C et al.

International Journal of Molecular Sciences, 2024

The JAK3Q988P mutation reveals oncogenic potential and resistance to ruxolitinib.

Lahera A et al.

Molecular Carcinogenesis, 2024

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Bodaar K et al.

Leukemia, 2022

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

Case Report: Mature Plasmacytoid Dendritic Cell Proliferation Associated With a Lymphoid Neoplasm.

Fei F et al.

Frontiers in Oncology, 2022

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Deregulation of the Interleukin-7 Signaling Pathway in Lymphoid Malignancies.

Lodewijckx I et al.

Pharmaceuticals (basel, Switzerland), 2021

Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Chang YH et al.

Scientific Reports, 2021

33436855 (PubMed )
Supplement: 41598_2020_80613_MOESM1_ESM.pdf

Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Ishida H et al.

Biomedical Reports, 2020

Capture-based Next-Generation Sequencing Improves the Identification of Immunoglobulin/T-Cell Receptor Clonal Markers and Gene Mutations in Adult Acute Lymphoblastic Leukemia Patients Lacking Molecular Probes.

Cavagna R et al.

Cancers, 2020

JAK/STAT-Activating Genomic Alterations Are a Hallmark of T-PLL.

Wahnschaffe L et al.

Cancers, 2019

31766351 (PubMed )
Supplement: cancers-11-01833-s001.zip › Supplementary_Table_3.xlsx › Tabelle1

Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Khater F et al.

Jama Network Open, 2019

Janus kinase 2 activation mechanisms revealed by analysis of suppressing mutations.

Hammarén HM et al.

The Journal of Allergy and Clinical Immunology, 2019

Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Pouliot GP et al.

Plos One, 2019

31721781 (PubMed )
Supplement: pone.0221288.s010.xlsx › SNV

Hedgehog pathway mutations drive oncogenic transformation in high-risk T-cell acute lymphoblastic leukemia.

Burns MA et al.

Leukemia, 2018

29654263 (PubMed )
Supplement: NIHMS944706-supplement-Table_S2.xlsx › Table_S2

Integrated molecular profiling of juvenile myelomonocytic leukemia.

Murakami N et al.

Blood, 2018

Discovery of novel drug sensitivities in T-PLL by high-throughput ex vivo drug testing and mutation profiling.

Andersson EI et al.

Leukemia, 2018

Mutant JAK3 signaling is increased by loss of wild-type JAK3 or by acquisition of secondary JAK3 mutations in T-ALL.

Degryse S et al.

Blood, 2018

Hyperactivation of Oncogenic JAK3 Mutants Depend on ATP Binding to the Pseudokinase Domain.

Raivola J et al.

Frontiers in Oncology, 2018

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Richter-Pechańska P et al.

Blood Cancer Journal, 2017

28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts

Genomic characterization of pediatric T-cell acute lymphoblastic leukemia reveals novel recurrent driver mutations.

Spinella JF et al.

Oncotarget, 2016

27602765 (PubMed )
Supplement: oncotarget-07-65485-s001.pdf

Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group.

Bresolin S et al.

Oncotarget, 2016

Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.

Losdyck E et al.

The Journal of Biological Chemistry, 2015

Leukemic evolution of donor-derived cells harboring IDH2 and DNMT3A mutations after allogeneic stem cell transplantation.

Yasuda T et al.

Leukemia, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."