Varaico: Literature-Extracted Genetic Variants

Gene:SEC61A1
Variant:p.Y344H
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SEC61A1

NM_013336.4:p.Y344H

Associated Papers

A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.

Schlevogt B et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2023

Sec61 complex/translocon: The role of an atypical ER Ca2+-leak channel in health and disease.

Parys JB et al.

Frontiers in Physiology, 2022

Complexity and Specificity of Sec61-Channelopathies: Human Diseases Affecting Gating of the Sec61 Complex.

Sicking M et al.

Cells, 2021

Identification of signal peptide features for substrate specificity in human Sec62/Sec63-dependent ER protein import.

Schorr S et al.

The Febs Journal, 2020

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.

Bolar NA et al.

American Journal of Human Genetics, 2016

Co-chaperone Specificity in Gating of the Polypeptide Conducting Channel in the Membrane of the Human Endoplasmic Reticulum.

Schorr S et al.

The Journal of Biological Chemistry, 2015

A point mutation in Sec61alpha1 leads to diabetes and hepatosteatosis in mice.

Lloyd DJ et al.

Diabetes, 2010

Let's talk about Secs: Sec61, Sec62 and Sec63 in signal transduction, oncology and personalized medicine.

Linxweiler M et al.

Signal Transduction and Targeted Therapy, 0

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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."