Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.L454Q
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RAG1

NM_000448.3:p.L454Q

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

Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.

Cifaldi C et al.

Journal of Clinical Immunology, 2022

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_

DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile.

Al-Herz W et al.

Clinical Immunology (orlando, Fla.), 2018

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W et al.

Frontiers in Immunology, 2018

Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2015

Crystal structure of the V(D)J recombinase RAG1-RAG2.

Kim MS et al.

Nature, 2015

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Lee YN et al.

The Journal of Allergy and Clinical Immunology, 2014

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Dalal I 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."