Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.E962A
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RAG1

NM_000448.3:p.E962A

Associated Papers

The Conserved ATM Kinase RAG2-S365 Phosphorylation Site Limits Cleavage Events in Individual Cells Independent of Any Repair Defect.

Hewitt SL et al.

Cell Reports, 2017

29069605 (PubMed )
Supplement: NIHMS914061-supplement-1.pdf

Non-consensus heptamer sequences destabilize the RAG post-cleavage complex, making ends available to alternative DNA repair pathways.

Arnal SM et al.

Nucleic Acids Research, 2010

A zinc site in the C-terminal domain of RAG1 is essential for DNA cleavage activity.

Gwyn LM et al.

Journal of Molecular Biology, 2009

Amino acid residues in Rag1 crucial for DNA hairpin formation.

Lu CP et al.

Nature Structural & Molecular Biology, 2006

Joining mutants of RAG1 and RAG2 that demonstrate impaired interactions with the coding-end DNA.

Nagawa F et al.

The Journal of Biological Chemistry, 2004

RAG proteins shepherd double-strand breaks to a specific pathway, suppressing error-prone repair, but RAG nicking initiates homologous recombination.

Lee GS et al.

Cell, 2004

Mutations of acidic residues in RAG1 define the active site of the V(D)J recombinase.

Kim DR et al.

Genes & Development, 1999

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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."