Varaico: Literature-Extracted Genetic Variants

Gene:JAK3
Variant:p.A572V
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JAK3

NM_000215.4:p.A572V

Associated Papers

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

Diagnosis of primary meningeal natural killer/T‑cell lymphoma of the central nervous system using cerebrospinal fluid cytology: A case report.

Chen X et al.

Oncology Letters, 2025

Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.

Hoffmann M et al.

Scientific Reports, 2025

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_2

JAK/STAT in human diseases: a common axis in immunodeficiencies and hematological disorders.

Djidjik R et al.

Frontiers in Immunology, 2025

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.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

Clonal hematopoiesis with DNMT3A and PPM1D mutations impairs regeneration in autologous stem cell transplant recipients.

Stelmach P et al.

Haematologica, 2023

37381752 (PubMed )
Supplement: 2023_282992_STELMACH_SUPPL.pdf

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.

Ott N et al.

Journal of Clinical Immunology, 2023

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_1

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

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

In vivo impact of JAK3 A573V mutation revealed using zebrafish.

Basheer F et al.

Cellular and Molecular Life Sciences : Cmls, 2022

GATA1 mutation analysis and molecular landscape characterization in acute myeloid leukemia with trisomy 21 in pediatric patients.

Panferova A et al.

International Journal of Laboratory Hematology, 2021

Untwining Anti-Tumor and Immunosuppressive Effects of JAK Inhibitors-A Strategy for Hematological Malignancies?

Klein K et al.

Cancers, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Current Progress in Investigating Mature T- and NK-Cell Lymphoma Gene Aberrations by Next-Generation Sequencing (NGS).

Zhu L et al.

Cancer Management and Research, 2021

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Bick AG et al.

Nature, 2020

33057201 (PubMed )
Supplement: NIHMS1609346-supplement-1609346_SuppTables.xlsx › S2

Janus Kinase Mutations in Mice Lacking PU.1 and Spi-B Drive B Cell Leukemia through Reactive Oxygen Species-Induced DNA Damage.

Lim M et al.

Molecular and Cellular Biology, 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

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors.

Smith AM et al.

Oncotarget, 2019

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.

Labuhn M et al.

Cancer Cell, 2019

Differential effect of inhibitory strategies of the V617 mutant of JAK2 on cytokine receptor signaling.

Leroy E et al.

The Journal of Allergy and Clinical Immunology, 2019

The LL-100 panel: 100 cell lines for blood cancer studies.

Quentmeier H et al.

Scientific Reports, 2019

Oncogenic activation of the STAT3 pathway drives PD-L1 expression in natural killer/T-cell lymphoma.

Song TL et al.

Blood, 2018

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Integrative omics analyses broaden treatment targets in human cancer.

Sengupta S et al.

Genome Medicine, 2018

30053901 (PubMed )
Supplement: 13073_2018_564_MOESM2_ESM.xlsx › 3

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

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

Frequent Mutations in Natural Killer/T Cell Lymphoma.

Zhang Y et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

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

Raivola J et al.

Frontiers in Oncology, 2018

Novel JAK3-Activating Mutations in Extranodal NK/T-Cell Lymphoma, Nasal Type.

Sim SH et al.

The American Journal of Pathology, 2017

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.

Sic H et al.

Frontiers in Immunology, 2017

Loss of mutL homolog-1 (MLH1) expression promotes acquisition of oncogenic and inhibitor-resistant point mutations in tyrosine kinases.

Springuel L et al.

Cellular and Molecular Life Sciences : Cmls, 2016

Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

Bonfiglio S et al.

Bmc Cancer, 2016

27578032 (PubMed )
Supplement: 12885_2016_2720_MOESM5_ESM.xlsx › Table_S10

Frequent BCOR aberrations in extranodal NK/T-Cell lymphoma, nasal type.

Dobashi A et al.

Genes, Chromosomes & Cancer, 2016

Potential Role of JAK-STAT Signaling Pathway in the Neurogenic-to-Gliogenic Shift in Down Syndrome Brain.

Lee HC et al.

Neural Plasticity, 2016

Transforming Mutations of Jak3 (A573V and M511I) Show Differential Sensitivity to Selective Jak3 Inhibitors.

Martinez GS et al.

Clinical Cancer Drugs, 2016

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular Pathogenesis of Peripheral T Cell Lymphoma.

Sakata-Yanagimoto M et al.

Current Hematologic Malignancy Reports, 2015

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

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Development of Selective Covalent Janus Kinase 3 Inhibitors.

Tan L et al.

Journal of Medicinal Chemistry, 2015

Whole-genome sequencing reveals oncogenic mutations in mycosis fungoides.

McGirt LY et al.

Blood, 2015

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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."