Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.M322T
Back to variants list

RAG2

NM_000536.4:p.M322T

Associated Papers

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.

Haque N et al.

Iscience, 2023

Allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency.

Morris EC

Hematology. American Society of Hematology. Education Program, 2020

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K et al.

Frontiers in Immunology, 2017

Human RAG mutations: biochemistry and clinical implications.

Notarangelo LD et al.

Nature Reviews. Immunology, 2016

Compound heterozygous mutation of Rag1 leading to Omenn syndrome.

Matthews AG et al.

Plos One, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."