Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.L885R
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RAG1

NM_000448.3:p.L885R

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: mmc7.xlsx › S6B-RAG1_Predicted

Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.

Mou W et al.

Immunogenetics, 2023

Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2015

Crystal structure of the V(D)J recombinase RAG1-RAG2.

Kim MS et al.

Nature, 2015

RAG-dependent primary immunodeficiencies.

Sobacchi C et al.

Human Mutation, 2006

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

Kato M et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2006

The genetic and biochemical basis of Omenn syndrome.

Santagata S et al.

Immunological Reviews, 2000

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

Wada T et al.

Clinical and Experimental Immunology, 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."