Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.P180H
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RAG2

NM_000536.4:p.P180H

Associated Papers

From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.

Taghizadeh Mortezaei N et al.

Bmc Pediatrics, 2024

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

37854700 (PubMed )
Supplement: mmc3.xlsx › Table_S2_RAG2_Scores_57_74

Predicting the Occurrence of Variants in RAG1 and RAG2.

Lawless D et al.

Journal of Clinical Immunology, 2019

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection.

Dutmer CM et al.

Journal of Clinical Immunology, 2015

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."