Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.E962D
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RAG1

NM_000448.3:p.E962D

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

Identification of basic residues in RAG2 critical for DNA binding by the RAG1-RAG2 complex.

Fugmann SD et al.

Molecular Cell, 2001

Mutational analysis of RAG1 and RAG2 identifies three catalytic amino acids in RAG1 critical for both cleavage steps of V(D)J recombination.

Landree MA et al.

Genes & Development, 1999

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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."