Varaico: Literature-Extracted Genetic Variants

Gene:RNF31
Variant:p.L72P
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RNF31

NM_017999.5:p.L72P

Associated Papers

GPS2 regulates embryonic angiogenesis by enhancing endothelial cell survival through stabilizing HOIP.

Lu Y et al.

Cell Death and Differentiation, 2026

Novel Compound Heterozygous Mutations in HOIP Result in Autoinflammation and Immunodeficiency.

Wang L et al.

Journal of Clinical Immunology, 2025

Identification and molecular analysis of RNF31 Q622H germline polymorphism.

Nakazawa S et al.

Oncology Letters, 2022

Linear ubiquitination in immune and neurodegenerative diseases, and beyond.

Tokunaga F et al.

Biochemical Society Transactions, 2022

Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.

Jahan AS et al.

Cell Death and Differentiation, 2021

Linear Ubiquitin Code: Its Writer, Erasers, Decoders, Inhibitors, and Implications in Disorders.

Oikawa D et al.

International Journal of Molecular Sciences, 2020

Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC.

Oda H et al.

Frontiers in Immunology, 2019

An Update on Autoinflammatory Diseases: Relopathies.

Steiner A et al.

Current Rheumatology Reports, 2018

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W et al.

Frontiers in Immunology, 2018

The Met1-Linked Ubiquitin Machinery: Emerging Themes of (De)regulation.

Hrdinka M et al.

Molecular Cell, 2017

Linear ubiquitin chains: enzymes, mechanisms and biology.

Rittinger K et al.

Open Biology, 2017

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Boisson B et al.

The Journal of Experimental Medicine, 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."