Varaico: Literature-Extracted Genetic Variants

Gene:RNF2
Variant:p.I53S
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RNF2

NM_007212.4:p.I53S

Associated Papers

The USP43/RNF2 axis negatively regulates antiviral innate immunity by promoting TBK1 ubiquitination and degradation.

Zhao X et al.

Cell Death and Differentiation, 2025

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.

Gunelson AM et al.

Journal of Human Genetics, 2025

40316779 (PubMed )
Supplement: 10038_2025_1343_MOESM1_ESM.pdf

Navigating the complexity of Polycomb repression: Enzymatic cores and regulatory modules.

Tamburri S et al.

Molecular Cell, 2024

Alterations in oligodendrocyte transcriptional networks reveal region-specific vulnerabilities to neurological disease.

Tommasini D et al.

Iscience, 2023

RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.

Doyle LA et al.

Epigenomes, 2022

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.

Avagliano Trezza R et al.

Scientific Reports, 2021

Histone H2AK119 Mono-Ubiquitination Is Essential for Polycomb-Mediated Transcriptional Repression.

Tamburri S et al.

Molecular Cell, 2020

RYBP modulates stability and function of Ring1B through targeting UBE3A.

Li M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Nuclear RNF2 inhibits interferon function by promoting K33-linked STAT1 disassociation from DNA.

Liu S et al.

Nature Immunology, 2018

PCGF6-PRC1 suppresses premature differentiation of mouse embryonic stem cells by regulating germ cell-related genes.

Endoh M et al.

Elife, 2017

Dual Roles of RNF2 in Melanoma Progression.

Rai K et al.

Cancer Discovery, 2015

Regulation of the Polycomb protein RING1B ubiquitination by USP7.

de Bie P et al.

Biochemical and Biophysical Research Communications, 2010

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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."