Varaico: Literature-Extracted Genetic Variants

Gene:ERLIN2
Variant:p.T65I
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ERLIN2

NM_007175.8:p.T65I

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG18

Usp25-Erlin1/2 activity limits cholesterol flux to restrict virus infection.

Teo QW et al.

Developmental Cell, 2023

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.

Wang J et al.

Annals of Clinical and Translational Neurology, 2023

Raft-like lipid microdomains drive autophagy initiation via AMBRA1-ERLIN1 molecular association within MAMs.

Manganelli V et al.

Autophagy, 2021

The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.

Wright FA et al.

The Journal of Biological Chemistry, 2018

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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."