Varaico: Literature-Extracted Genetic Variants

Gene:RETREG1
Variant:p.G216R
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RETREG1

NM_001034850.3:p.G216R

Associated Papers

Cholesterol sensing by the SCAP-FAM134B complex regulates ER-phagy and STING innate immunity.

Li B et al.

Nature Cell Biology, 2025

Regulation and function of endoplasmic reticulum autophagy in neurodegenerative diseases.

Zhao XY et al.

Neural Regeneration Research, 2025

FAM134B in Cellular Homeostasis: Bridging Endoplasmic Reticulum-Phagy to Human Diseases.

Chen N et al.

International Journal of Biological Sciences, 2025

Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy.

Çakar A et al.

Journal of the Peripheral Nervous System : Jpns, 2023

Molecular characterization of wild-type and HSAN2B-linked FAM134B.

Kanamori A et al.

Molecular Biology Reports, 2023

ER-phagy: selective autophagy of the endoplasmic reticulum.

Mochida K et al.

Embo Reports, 2022

FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.

Jiang X et al.

The Embo Journal, 2020

RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer.

Islam F et al.

Journal of Cellular Physiology, 2018

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Davidson G et al.

Journal of Neurology, 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."