Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.C358Y
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RAG1

NM_000448.3:p.C358Y

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: mmc2.xlsx › Table_S1_RAG1_Scores_125_74

T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.

Fang M et al.

Journal of Clinical Immunology, 2022

Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran.

Shahbazi Z et al.

Immunology Letters, 2019

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

Abolhassani H et al.

The Journal of Allergy and Clinical Immunology, 2014

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 0

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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."