Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.C730F
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RAG1

NM_000448.3:p.C730F

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

Human RAG mutations: biochemistry and clinical implications.

Notarangelo LD et al.

Nature Reviews. Immunology, 2016

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

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2

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

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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."