Varaico: Literature-Extracted Genetic Variants

Gene:RNF168
Variant:p.A133insFs
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RNF168

NM_152617.4:p.A133insFs

Associated Papers

The Emerging Role of the Histone H2AK13/15 Ubiquitination: Mechanisms of Writing, Reading, and Erasing in DNA Damage Repair and Disease.

Shu Q et al.

Cells, 2025

New answers to the old RIDDLE: RNF168 and the DNA damage response pathway.

Kelliher J et al.

The Febs Journal, 2022

Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.

Pietrucha B et al.

Frontiers in Immunology, 2017

DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome.

Blundred RM et al.

Expert Review of Clinical Immunology, 2011

Solving the RIDDLE of 53BP1 recruitment to sites of damage.

Stewart GS

Cell Cycle (georgetown, Tex.), 2009

The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.

Stewart GS et al.

Cell, 2009

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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."