Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.H481P
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RAG2

NM_000536.4:p.H481P

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: mmc3.xlsx › Table_S2_RAG2_Scores_57_74

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

Tirosh I et al.

The Journal of Allergy and Clinical Immunology, 2019

Disruption of the RAG2 zinc finger motif impairs protein stability and causes immunodeficiency.

Xu K et al.

European Journal of Immunology, 2016

Analysis of mutations and recombination activity in RAG-deficient patients.

Asai E et al.

Clinical Immunology (orlando, Fla.), 2011

Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.

Couëdel C et al.

The Journal of Clinical Investigation, 2010

PHD fingers in human diseases: disorders arising from misinterpreting epigenetic marks.

Baker LA et al.

Mutation Research, 2008

A plant homeodomain in RAG-2 that binds Hypermethylated lysine 4 of histone H3 is necessary for efficient antigen-receptor-gene rearrangement.

Liu Y et al.

Immunity, 2007

A PHD finger motif in the C terminus of RAG2 modulates recombination activity.

Elkin SK et al.

The Journal of Biological Chemistry, 2005

The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.

Noordzij JG et al.

Blood, 2002

The roles of the RAG1 and RAG2 "non-core" regions in V(D)J recombination and lymphocyte development.

Jones JM et al.

Archivum Immunologiae Et Therapiae Experimentalis, 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."