Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.L110V
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RAG1

NM_000448.3:p.L110V

Associated Papers

V(D)J Recombination: Recent Insights in Formation of the Recombinase Complex and Recruitment of DNA Repair Machinery.

Christie SM et al.

Frontiers in Cell and Developmental Biology, 2022

High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing.

Xiao F et al.

Frontiers in Genetics, 2021

The RING domain of RAG1 ubiquitylates histone H3: a novel activity in chromatin-mediated regulation of V(D)J joining.

Grazini U et al.

Molecular Cell, 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."