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

A RETREG1 variant is associated with hereditary sensory and autonomic neuropathy with acral self-mutilation in purebred German Spitz.

Letko A et al.

Animal Genetics, 2024

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

Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.

Luo ZY et al.

Indian Journal of Dermatology, Venereology and Leprology, 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."