Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.F556V
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JAK2

NM_004972.4:p.F556V

Associated Papers

Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.

Loscocco GG et al.

Expert Review of Molecular Diagnostics, 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

Clinical laboratory characteristics and gene mutation spectrum of Ph-negative MPN patients with atypical variants of JAK2, MPL, or CALR.

Wang Z et al.

Cancer Medicine, 2024

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Luque Paz D et al.

Blood, 2023

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

Recent Advances in Molecular Diagnostics and Targeted Therapy of Myeloproliferative Neoplasms.

Stivala S et al.

Cancers, 2021

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

Loscocco GG et al.

Cells, 2021

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

Müller J et al.

Hemasphere, 2021

Recent insights regarding the molecular basis of myeloproliferative neoplasms.

Jang MA et al.

The Korean Journal of Internal Medicine, 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

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

Schulze S et al.

Genes, Chromosomes & Cancer, 2019

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

Zuo Z et al.

Current Hematologic Malignancy Reports, 2019

Next-generation sequencing with a 54-gene panel identified unique mutational profile and prognostic markers in Chinese patients with myelofibrosis.

Gill H et al.

Annals of Hematology, 2019

The Role of New Technologies in Myeloproliferative Neoplasms.

Palumbo GA et al.

Frontiers in Oncology, 2019

Effects of JAK2 V556F mutation on the JAK2's activity, structural stability and the transformation of Ba/F3 cells.

Wu QY et al.

International Journal of Biological Macromolecules, 2018

Advances in understanding the pathogenesis of familial myeloproliferative neoplasms.

Rumi E et al.

British Journal of Haematology, 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

Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Milosevic Feenstra JD et al.

Blood, 2016

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