Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.C446W
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RAG2

NM_000536.4:p.C446W

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: mmc3.xlsx › Table_S2_RAG2_Scores_57_74

[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]

Argudo Ramírez A et al.

Revista Espanola De Salud Publica, 2020

[Ichtyosiform erythroderma revealing a severe combined immunodeficiency].

Ghariani Fetoui N et al.

Annales De Dermatologie Et De Venereologie, 2020

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

Human RAG mutations: biochemistry and clinical implications.

Notarangelo LD et al.

Nature Reviews. Immunology, 2016

Analysis of mutations and recombination activity in RAG-deficient patients.

Asai E et al.

Clinical Immunology (orlando, Fla.), 2011

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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."