Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.K539I
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JAK2

NM_004972.4:p.K539I

Associated Papers

Comment on "Features and Allele Frequency of JAK2 exon 12-mutated Polycythemia Vera in Comparison with JAK2 V617F-mutated Disease".

Langabeer SE

Archives of Medical Research, 2025

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

Maddali M et al.

Annals of Hematology, 2020

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

Zuo Z et al.

Current Hematologic Malignancy Reports, 2019

Heterogeneity in myeloproliferative neoplasms: Causes and consequences.

O'Sullivan J et al.

Advances in Biological Regulation, 2019

Myeloproliferative neoplasms: from origins to outcomes.

Nangalia J et al.

Blood, 2017

Activating JAK2 mutants reveal cytokine receptor coupling differences that impact outcomes in myeloproliferative neoplasm.

Yao H et al.

Leukemia, 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

The molecular regulation of Janus kinase (JAK) activation.

Babon JJ et al.

The Biochemical Journal, 2014

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

Clinical and biological characterization of patients with low (0.1-2%) JAK2V617F allele burden at diagnosis.

Lippert E et al.

Haematologica, 2014

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

Etheridge SL et al.

Blood, 2014

Molecular classification of myeloproliferative neoplasms-pros and cons.

Qureshi M et al.

Current Hematologic Malignancy Reports, 2013

Laboratory practice guidelines for detecting and reporting JAK2 and MPL mutations in myeloproliferative neoplasms: a report of the Association for Molecular Pathology.

Gong JZ et al.

The Journal of Molecular Diagnostics : Jmd, 2013

A JAK2 interdomain linker relays Epo receptor engagement signals to kinase activation.

Zhao L et al.

The Journal of Biological Chemistry, 2009

Somatic mutations of JAK2 exon 12 in patients with JAK2 (V617F)-negative myeloproliferative disorders.

Pietra D et al.

Blood, 2008

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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."