Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.H538L
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JAK2

NM_004972.4:p.H538L

Associated Papers

Structural modeling of cytokine-receptor-JAK2 signaling complexes using AlphaFold Multimer.

Pogozheva ID et al.

Biorxiv : the Preprint Server for Biology, 2023

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_I.xlsx › All_patients_Erythrocytosis

Molecular insights into regulation of JAK2 in myeloproliferative neoplasms.

Silvennoinen O et al.

Blood, 2015

Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase.

Shan Y et al.

Nature Structural & Molecular Biology, 2014

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

Etheridge SL et al.

Blood, 2014

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

Zhao L et al.

The Journal of Biological Chemistry, 2009

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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."