Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.E543del1
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JAK2

NM_004972.4:p.E543del1

Associated Papers

Iron is a modifier of the phenotypes of JAK2-mutant myeloproliferative neoplasms.

Stetka J et al.

Blood, 2023

Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology.

Chia YC et al.

Diagnostics (basel, Switzerland), 2023

A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia.

Hao Z et al.

Frontiers in Oncology, 2023

The prevalence of JAK2 exon12 mutations in Vietnamese patients with JAK2 V617F-negative polycythemia vera: frequent or rare?

Nguyen NT et al.

Human Heredity, 2022

Genetic Background of Polycythemia Vera.

Regimbeau M et al.

Genes, 2022

[Clinical and laboratory features compared between JAK2 exon12 and JAK2 V617F mutated polycythemia vera].

Liu D et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

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

Easwar A et al.

Life (basel, Switzerland), 2021

Harnessing the Power of Induced Pluripotent Stem Cells and Gene Editing Technology: Therapeutic Implications in Hematological Malignancies.

Sidhu I et al.

Cells, 2021

Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.

Stuckey R et al.

International Journal of Molecular Sciences, 2021

A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms.

Guijarro-Hernández A et al.

Cancers, 2021

JAK2S523L, a novel gain-of-function mutation in a critical autoregulatory residue in JAK2V617F- MPNs.

Pastore F et al.

Blood Advances, 2020

Prevalence of prothrombotic factors in patients with Budd-Chiari syndrome or non-cirrhotic nonmalignant portal vein thrombosis: A hospital-based observational study.

Fan J et al.

Journal of Gastroenterology and Hepatology, 2020

JAK2 exon 12 mutations in cases with JAK2V617F-negative polycythemia vera and primary myelofibrosis.

Maddali M et al.

Annals of Hematology, 2020

Diagnosis of exon 12-positive polycythemia vera rescued by NGS.

Geay A et al.

Clinical Case Reports, 2020

Recent insights regarding the molecular basis of myeloproliferative neoplasms.

Jang MA et al.

The Korean Journal of Internal Medicine, 2020

Myeloproliferative Neoplasms in Children and Adolescents and Thrombosis at Unusual Sites: The Role of Driver Mutations.

Tafesh L et al.

Journal of Pediatric Hematology/oncology, 2019

Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches.

Ochoa S et al.

Human Mutation, 2019

Correlation analysis between JAK2, MPL, and CALR mutations in patients with myeloproliferative neoplasms of Chinese Uygur and Han nationality and their clinical characteristics.

Lang T et al.

The Journal of International Medical Research, 2018

Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2, CALR, and MPL in Myeloproliferative Neoplasms.

Frawley T et al.

Genetic Testing and Molecular Biomarkers, 2018

HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.

Liu Q et al.

Cancer Biology & Therapy, 2017

Detection Mutations of JAK2 exon 12 in Patients with JAK2 (V617F)-negative Myeloproliferative Disorders.

Makani SZ et al.

The Gulf Journal of Oncology, 2017

Progenitor genotyping reveals a complex clonal architecture in a subset of CALR-mutated myeloproliferative neoplasms.

Martin S et al.

British Journal of Haematology, 2017

A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.

Liu Q et al.

Endocrine Pathology, 2017

JAK2 exon 12 mutant mice display isolated erythrocytosis and changes in iron metabolism favoring increased erythropoiesis.

Grisouard J et al.

Blood, 2016

Somatic JAK2 mutations and their tumor phenotypes.

Tefferi A

Blood, 2016

High frequency of JAK2 exon 12 mutations in Korean patients with polycythaemia vera: novel mutations and clinical significance.

Park CH et al.

Journal of Clinical Pathology, 2016

Detection of JAK2 Exon 12 Mutations in JAK2 V617F-Negative Polycythemia Vera Patients by Cloning Technique.

Leszczynska A et al.

Acta Haematologica, 2016

Molecular diagnostics of myeloproliferative neoplasms.

Langabeer SE et al.

European Journal of Haematology, 2015

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

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

The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms.

Wu Z et al.

Journal of Hematology & Oncology, 2014

JAK2 V617F mutation and 46/1 haplotype in Chinese Budd-Chiari syndrome patients.

Wang H et al.

Journal of Gastroenterology and Hepatology, 2014

JAK2V617F mutation status and allele burden in classical Ph-negative myeloproliferative neoplasms in Japan.

Edahiro Y et al.

International Journal of Hematology, 2014

Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Bento C et al.

European Journal of Haematology, 2013

Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.

Bench AJ et al.

British Journal of Haematology, 2013

Methods for detecting mutations in the human JAK2 gene.

Bench AJ et al.

Methods in Molecular Biology (clifton, N.j.), 2013

JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone.

Godfrey AL et al.

Blood, 2012

[JAK2 exon 12 mutations in patients with Philadelphia (Ph) chromosome-negative myeloproliferative neoplasms].

Wang JY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012

JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.

Xia J et al.

Chinese Journal of Cancer Research = Chung-kuo Yen Cheng Yen Chiu, 2012

The role of molecular genetic analysis within the diagnostic haemato-oncology laboratory.

Bench AJ

International Journal of Laboratory Hematology, 2012

A highly sensitive quantitative real-time PCR assay for determination of mutant JAK2 exon 12 allele burden.

Kjær L et al.

Plos One, 2012

The JAK2 exon 12 mutations: a comprehensive review.

Scott LM

American Journal of Hematology, 2011

Myeloproliferative neoplasms: from JAK2 mutations discovery to JAK2 inhibitor therapies.

Passamonti F et al.

Oncotarget, 2011

Molecular and clinical features of the myeloproliferative neoplasm associated with JAK2 exon 12 mutations.

Passamonti F et al.

Blood, 2011

Genetics of the myeloproliferative neoplasms.

Abdel-Wahab O

Current Opinion in Hematology, 2011

Differences in the JAK2 and MPL mutation status in the cell lineages of the bcr/abl-negative chronic myeloproliferative neoplasm subtypes.

Toyama K et al.

Internal Medicine (tokyo, Japan), 2011

Jak/STAT pathways in cytokine signaling and myeloproliferative disorders: approaches for targeted therapies.

Jatiani SS et al.

Genes & Cancer, 2010

The analysis of JAK2 and MPL mutations and JAK2 single nucleotide polymorphisms in MPN patients by MassARRAY assay.

Zhang SJ et al.

International Journal of Laboratory Hematology, 2010

High percentage of JAK2 exon 12 mutation in Asian patients with polycythemia vera.

Yeh YM et al.

American Journal of Clinical Pathology, 2010

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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."