Varaico: Literature-Extracted Genetic Variants

Gene:RNF2
Variant:p.R70C
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RNF2

NM_007212.4:p.R70C

Associated Papers

RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.

Ryan CW et al.

Nature Communications, 2024

39256363 (PubMed )
Supplement: 41467_2024_52292_MOESM2_ESM.pdf

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

Luo X et al.

Human Molecular Genetics, 2021

The nucleosome acidic patch and H2A ubiquitination underlie mSWI/SNF recruitment in synovial sarcoma.

McBride MJ et al.

Nature Structural & Molecular Biology, 2020

Nuclear organization of nucleotide excision repair is mediated by RING1B dependent H2A-ubiquitylation.

Chitale S et al.

Oncotarget, 2017

Dual Roles of RNF2 in Melanoma Progression.

Rai K et al.

Cancer Discovery, 2015

Structure and E3-ligase activity of the Ring-Ring complex of polycomb proteins Bmi1 and Ring1b.

Buchwald G et al.

The Embo Journal, 2006

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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."