Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.E719K
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RAG1

NM_000448.3:p.E719K

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

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

Kim MS et al.

Nature, 2015

A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.

Wong SY et al.

Journal of Immunology (baltimore, Md. : 1950), 2008

Rag-1 mutations associated with B-cell-negative scid dissociate the nicking and transesterification steps of V(D)J recombination.

Li W et al.

Molecular and Cellular Biology, 2001

Identification of two catalytic residues in RAG1 that define a single active site within the RAG1/RAG2 protein complex.

Fugmann SD et al.

Molecular Cell, 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."