Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.A19D
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P4HB

NM_000918.4:p.A19D

Associated Papers

Protein disulfide isomerase cleaves allosteric disulfides in histidine-rich glycoprotein to regulate thrombosis.

Lv K et al.

Nature Communications, 2024

Molecular analysis of human Ero1 reveals novel regulatory mechanisms for oxidative protein folding.

Moilanen A et al.

Life Science Alliance, 2018

Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.

Bichet DG et al.

The Journal of Clinical Investigation, 2017

ER-associated degradation is required for vasopressin prohormone processing and systemic water homeostasis.

Shi G et al.

The Journal of Clinical Investigation, 2017

Compact conformations of human protein disulfide isomerase.

Yang S et al.

Plos One, 2014

Processing and turnover of the Hedgehog protein in the endoplasmic reticulum.

Chen X et al.

The Journal of Cell Biology, 2011

Modulation of an active-site cysteine pKa allows PDI to act as a catalyst of both disulfide bond formation and isomerization.

Karala AR et al.

Journal of Molecular Biology, 2010

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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."