Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.V779M
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RAG1

NM_000448.3:p.V779M

Associated Papers

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc2.xlsx › Table_S1_RAG1_Scores_125_74

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

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.

Matthews AG et al.

Plos One, 2015

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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."