Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.E341Q
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RAG2

NM_000536.4:p.E341Q

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: mmc9.xlsx › S6D-RAG2_Predicted

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

Gomez CA et al.

Molecular and Cellular Biology, 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."