Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.H538Q
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JAK2

NM_004972.4:p.H538Q

Associated Papers

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

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

Discovery and characterization of LY2784544, a small-molecule tyrosine kinase inhibitor of JAK2V617F.

Ma L et al.

Blood Cancer Journal, 2013

A shift in the salt bridge interaction of residues D620 and E621 mediates the constitutive activation of Jak2-H538Q/K539L.

Gnanasambandan K et al.

Molecular and Cellular Biochemistry, 2012

Genetics of the myeloproliferative neoplasms.

Abdel-Wahab O

Current Opinion in Hematology, 2011

Interlaboratory development and validation of a HRM method applied to the detection of JAK2 exon 12 mutations in polycythemia vera patients.

Ugo V et al.

Plos One, 2010

SOCS-mediated downregulation of mutant Jak2 (V617F, T875N and K539L) counteracts cytokine-independent signaling.

Haan S et al.

Oncogene, 2009

JAK2 V617F/C618R mutation in a patient with polycythemia vera: a case study and review of the literature.

Yoo JH et al.

Cancer Genetics and Cytogenetics, 2009

Clonal heterogeneity in polycythemia vera patients with JAK2 exon12 and JAK2-V617F mutations.

Li S et al.

Blood, 2008

Absence of JAK2 exon 12 mutation in acute leukemias.

Jeong EG et al.

Acta Haematologica, 2008

The frequency of JAK2 exon 12 mutations in idiopathic erythrocytosis patients with low serum erythropoietin levels.

Percy MJ et al.

Haematologica, 2007

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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."