Varaico: Literature-Extracted Genetic Variants

Gene:MPL
Variant:p.H499L
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MPL

NM_005373.3:p.H499L

Associated Papers

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

Pogozheva ID et al.

Biorxiv : the Preprint Server for Biology, 2023

37398331 (PubMed )
Supplement: media-1.pdf

An unusual, activating insertion/deletion MPL mutant in primary myelofibrosis.

Defour JP et al.

Leukemia, 2017

His499 Regulates Dimerization and Prevents Oncogenic Activation by Asparagine Mutations of the Human Thrombopoietin Receptor.

Leroy E et al.

The Journal of Biological Chemistry, 2016

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