Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.H608N
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JAK2

NM_004972.4:p.H608N

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

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

Clinical forecasting of acute myeloid leukemia using ex vivo drug-sensitivity profiling.

Andersen AN et al.

Cell Reports Methods, 2023

38065095 (PubMed )
Supplement: mmc2.pdf

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

Kimura H et al.

Platelets, 2023

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D et al.

Blood, 2023

Molecular basis of JAK2 H608Y and H608N mutations in the pathology of acute myeloid leukemia.

Li F et al.

International Journal of Biological Macromolecules, 2023

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

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

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

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

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

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Hong WJ et al.

Best Practice & Research. Clinical Haematology, 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

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