Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.S473A
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OPTN

NM_001008212.2:p.S473A

Associated Papers

Mitochondrial ROS triggers mitophagy through activating the DNA damage response signaling pathway.

Guo QQ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Quantitative proteomics reveals the selectivity of ubiquitin-binding autophagy receptors in the turnover of damaged lysosomes by lysophagy.

Eapen VV et al.

Elife, 2021

Structural insights into the ubiquitin recognition by OPTN (optineurin) and its regulation by TBK1-mediated phosphorylation.

Li F et al.

Autophagy, 2018

The PINK1-PARKIN Mitochondrial Ubiquitylation Pathway Drives a Program of OPTN/NDP52 Recruitment and TBK1 Activation to Promote Mitophagy.

Heo JM et al.

Molecular Cell, 2015

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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."