Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.H538D
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JAK2

NM_004972.4:p.H538D

Associated Papers

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 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

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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."