Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.D162E
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RAG1

NM_000448.3:p.D162E

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

Germline HAVCR2 mutations and their relation to the clinical spectrum of subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis: results from a multicenter study and meta-analysis.

Moonla C et al.

Haematologica, 2023

37051767 (PubMed )
Supplement: 2022_282419_MOONLA_SUPPL.pdf

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4
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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."