Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.R514W
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MPL

NM_005373.3:p.R514W

Associated Papers

Constitutive activation and oncogenicity are mediated by loss of helical structure at the cytosolic boundary of thrombopoietin receptor mutant dimers.

Defour JP et al.

Elife, 2023

Tryptophan at the transmembrane-cytosolic junction modulates thrombopoietin receptor dimerization and activation.

Defour JP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

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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."