Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.K86fs
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RAG1

NM_000448.3:p.K86fs

Associated Papers

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2G.Vars_in_all_genes_Family

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Case report: Identification of a Chinese patient with RAG1 mutations initially presenting as autoimmune hemolytic anemia.

Chen X et al.

Frontiers in Immunology, 2024

Primary Immunodeficiencies in Russia: Data From the National Registry.

Mukhina AA et al.

Frontiers in Immunology, 2020

Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.

Schröder C et al.

Clinical Immunology (orlando, Fla.), 2017

Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).

Sharapova SO et al.

Journal of Clinical Immunology, 2016

Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.

Corneo B et al.

Blood, 2001

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Villa A et al.

Journal of Clinical Immunology, 1999

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR et al.

The Journal of Allergy and Clinical Immunology. in Practice, 0

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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."