Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.R39G
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RAG2

NM_000536.4:p.R39G

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: mmc3.xlsx › Table_S2_RAG2_Scores_57_74

RAG2 abolishes RAG1 aggregation to facilitate V(D)J recombination.

Gan T et al.

Cell Reports, 2021

Predicting the Occurrence of Variants in RAG1 and RAG2.

Lawless D et al.

Journal of Clinical Immunology, 2019

Human RAG mutations: biochemistry and clinical implications.

Notarangelo LD et al.

Nature Reviews. Immunology, 2016

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

Corneo B et al.

Blood, 2001

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

Corneo B et al.

The Journal of Biological Chemistry, 2000

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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."