Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.I794T
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RAG1

NM_000448.3:p.I794T

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: mmc7.xlsx › S6B-RAG1_Predicted

A novel homozygous RAG1 mutation is associated with severe combined immunodeficiency and neurological presentations.

Melika S et al.

Allergologia Et Immunopathologia, 2021

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

Kim MS et al.

Nature, 2015

Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.

Dhingra N et al.

Hematology/oncology and Stem Cell Therapy, 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."