Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.K385fs
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JAK2

NM_004972.4:p.K385fs

Associated Papers

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

Djidjik R et al.

Frontiers in Immunology, 2025

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

38197452 (PubMed )
Supplement: supplement_1.docx

Diagnosis- and Prognosis-Related Gene Alterations in BCR::ABL1-Negative Myeloproliferative Neoplasms.

Morishita S et al.

International Journal of Molecular Sciences, 2023

Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

Maaziz N et al.

Genes, 2023

Mutation Profile in BCR-ABL1-Negative Myeloproliferative Neoplasms: A Single-Center Experience From India.

Maddali M et al.

Hematology/oncology and Stem Cell Therapy, 2022

Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms.

Wiriyaukaradecha K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2022

Genetic Landscape of Myeloproliferative Neoplasms with an Emphasis on Molecular Diagnostic Laboratory Testing.

Easwar A et al.

Life (basel, Switzerland), 2021

Integration of Molecular Information in Risk Assessment of Patients with Myeloproliferative Neoplasms.

Loscocco GG et al.

Cells, 2021

Myelofibrosis biology and contemporary management.

Gangat N et al.

British Journal of Haematology, 2020

Impact of Mutational Profile on the Management of Myeloproliferative Neoplasms: A Short Review of the Emerging Data.

Loscocco GG et al.

Oncotargets and Therapy, 2020

Mutant calreticulin in myeloproliferative neoplasms.

How J et al.

Blood, 2019

Philadelphia-Negative Myeloproliferative Neoplasms: Laboratory Workup in the Era of Next-Generation Sequencing.

Zuo Z et al.

Current Hematologic Malignancy Reports, 2019

Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia.

Vu HA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2019

Mayo CALR mutation type classification guide using alpha helix propensity.

Lasho TL et al.

American Journal of Hematology, 2018

Prognostication in Philadelphia Chromosome Negative Myeloproliferative Neoplasms: a Review of the Recent Literature.

Zhou A et al.

Current Hematologic Malignancy Reports, 2017

Recommendations for molecular testing in classical Ph1-neg myeloproliferative disorders-A consensus project of the Italian Society of Hematology.

Guglielmelli P et al.

Leukemia Research, 2017

Detection of driver and subclonal mutations in myelofibrosis: clinical impact on pharmacologic and transplant based treatment strategies.

Finazzi MC et al.

Expert Review of Hematology, 2017

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.

Yoo EH et al.

Journal of Clinical Laboratory Analysis, 2016

A novel calreticulin mutation in a patient with myeloproliferative neoplasm.

Hill AM et al.

Annals of Hematology, 2016

Coexistence of JAK2 and CALR mutations and their clinical implications in patients with essential thrombocythemia.

Kang MG et al.

Oncotarget, 2016

Genetic-pathologic characterization of myeloproliferative neoplasms.

Kim Y et al.

Experimental & Molecular Medicine, 2016

Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms.

Pietra D et al.

Leukemia, 2016

A new monoclonal antibody (CAL2) detects CALRETICULIN mutations in formalin-fixed and paraffin-embedded bone marrow biopsies.

Stein H et al.

Leukemia, 2016

Low neutrophil alkaline phosphatase score is a new aspect of calreticulin-mutated myeloproliferative neoplasms.

Kondo T et al.

Springerplus, 2016

The Prevalence of JAK2, MPL, and CALR Mutations in Chinese Patients With BCR-ABL1-Negative Myeloproliferative Neoplasms.

Lin Y et al.

American Journal of Clinical Pathology, 2015

Calreticulin exon 9 mutations in myeloproliferative neoplasms.

Ha JS et al.

Annals of Laboratory Medicine, 2015

Calreticulin mutations and long-term survival in essential thrombocythemia.

Tefferi A et al.

Leukemia, 2014

Low frequency of calreticulin mutations in MDS patients.

Heuser M et al.

Leukemia, 2014

Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis.

Rumi E et al.

Blood, 2014

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