Varaico: Literature-Extracted Genetic Variants

Gene:RNF168
Variant:p.K441_Q442delFs
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RNF168

NM_152617.4:p.K441_Q442delFs

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

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

Pietrucha B et al.

Frontiers in Immunology, 2017

Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Jang HM et al.

Bmc Genomics, 2014

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."