Varaico: Literature-Extracted Genetic Variants

Gene:RNF31
Variant:p.Q399H
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RNF31

NM_017999.5:p.Q399H

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

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

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

Oda H et al.

Frontiers in Immunology, 2019

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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."