Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.R564Q
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JAK2

NM_004972.4:p.R564Q

Associated Papers

Integrative Neoepitope Discovery in Glioblastoma via HLA Class I Profiling and AlphaFold2-Multimer.

Francés R et al.

Biomedicines, 2025

Germline JAK2 R564Q variants presenting as hereditary thrombocytosis: case report.

Franco S et al.

Bjc Reports, 2025

Germline predispositions to myeloid malignancies: Across the lifespan.

Atluri H et al.

Seminars in Hematology, 2025

Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.

Dakal TC et al.

Neuroscience, 2025

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.

Stewart BL et al.

Blood Advances, 2025

Germ line JAK2 variants and hereditary blood cancers.

Cannova J et al.

Blood Advances, 2025

Unraveling the germline inheritance of the JAK2F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance.

Meggendorfer M et al.

Haematologica, 2025

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

Djidjik R et al.

Frontiers in Immunology, 2025

41438753 (PubMed )
Supplement: Table1.pdf

Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients.

Puli'uvea C et al.

Hematology (amsterdam, Netherlands), 2024

Venous thromboembolism risk in adults with hereditary thrombophilia: a systematic review and meta-analysis.

Alnor AB et al.

Annals of Hematology, 2024

39167180 (PubMed )
Supplement: 277_2024_5926_MOESM1_ESM.docx

Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.

Kimura H et al.

Platelets, 2023

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.

Hogg G et al.

Cancer Genetics, 2023

Structural Analysis of Janus Tyrosine Kinase Variants in Hematological Malignancies: Implications for Drug Development and Opportunities for Novel Therapeutic Strategies.

Rodriguez Moncivais OJ et al.

International Journal of Molecular Sciences, 2023

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D et al.

Blood, 2023

JAK2 Mutations Are Rare and Diverse in Myelodysplastic Syndromes: Case Series and Review of the Literature.

Delio M et al.

Hematology Reports, 2023

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.

Carreño-Tarragona G et al.

Leukemia, 2021

Hereditary thrombocytosis: the genetic landscape.

Han EY et al.

British Journal of Haematology, 2021

Identification of a JAK2 FERM Domain Variant Associated With Hereditary Thrombocytosis.

Müller J et al.

Hemasphere, 2021

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

Germline JAK2 V617F mutation as a susceptibility gene causing myeloproliferative neoplasm in first-degree relatives.

Park HS et al.

Leukemia & Lymphoma, 2020

Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.

Bellanné-Chantelot C et al.

Blood Reviews, 2020

Genomic landscape of metastatic papillary thyroid carcinoma and novel biomarkers for predicting distant metastasis.

Lan X et al.

Cancer Science, 2020

32187423 (PubMed )
Supplement: CAS-111-2163-s007.xlsx › ctDNA_table_thyroid

Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

McMullin MF

Hematology. American Society of Hematology. Education Program, 2019

Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F- and MPLW515 L-positive myelofibrosis.

Schulze S et al.

Genes, Chromosomes & Cancer, 2019

Essential thrombocytosis attributed to JAK2-T875N germline mutation.

Yoshimitsu M et al.

International Journal of Hematology, 2019

V617F-independent upregulation of JAK2 gene expression in patients with inflammatory bowel disease.

Asadzadeh-Aghdaei H et al.

Journal of Cellular Biochemistry, 2019

Non-genetic and genetic risk factors for adult cerebral venous thrombosis.

Green M et al.

Thrombosis Research, 2018

Germline JAK2 L611S mutation in a child with thrombocytosis.

Aral B et al.

Haematologica, 2018

Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.

Rumi E et al.

British Journal of Haematology, 2017

Drug-sensitive FGFR3 mutations in lung adenocarcinoma.

Chandrani P et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2017

27998968 (PubMed )
Supplement: mdw636_supp.zip › Chandrani_et_al._suppl_tables_20161110.xlsx › S3.Variants

Genetic Risk Factors of Venous Thromboembolism in the East Algerian Population.

Moussaoui S et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

Germline genetic variation in JAK2 as a prognostic marker in castration-resistant prostate cancer.

Zhang BY et al.

Bju International, 2017

Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Rumi E et al.

Blood, 2017

Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Plo I et al.

Frontiers in Endocrinology, 2017

Identification of MPL R102P Mutation in Hereditary Thrombocytosis.

Bellanné-Chantelot C et al.

Frontiers in Endocrinology, 2017

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Lanikova L et al.

Blood, 2016

[Paroxysmal nocturnal hemoglobinuria: An unknown cause of thrombosis?].

Doutrelon C et al.

Journal Des Maladies Vasculaires, 2015

Analysis of JAK2V617F mutation in Jordanian patients with myeloproliferative neoplasms.

Jaradat SA et al.

Hematology/oncology and Stem Cell Therapy, 2015

Thrombophilic factor analysis in cirrhotic patients with portal vein thrombosis.

Saugel B et al.

Journal of Thrombosis and Thrombolysis, 2015

Thrombotic risk factors in Chinese nonmalignant and noncirrhotic patients with portal vein thrombosis: an observational study with a systematic review of the literature.

Qi X et al.

European Journal of Gastroenterology & Hepatology, 2015

Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

Langabeer SE et al.

Familial Cancer, 2014

Back to biology: new insights on inheritance in myeloproliferative disorders.

Braunstein EM et al.

Current Hematologic Malignancy Reports, 2014

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Hong WJ et al.

Best Practice & Research. Clinical Haematology, 2014

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

Marty C et al.

Blood, 2014

A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.

Etheridge SL et al.

Blood, 2014

A novel germline JAK2 mutation in familial myeloproliferative neoplasms.

Rumi E et al.

American Journal of Hematology, 2014

JAK2 mutations to the fore in hereditary thrombocythemia.

Langabeer SE

Jak-stat, 2014

Inherited predisposition to myeloproliferative neoplasms.

Jones AV et al.

Therapeutic Advances in Hematology, 2013

Splanchnic vein thrombosis following renal transplantation: a case report.

Tatar E et al.

Bmc Nephrology, 2013

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