Varaico: Literature-Extracted Genetic Variants

Gene:RAG2
Variant:p.Y217F
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RAG2

NM_000536.4:p.Y217F

Associated Papers

Identification of basic residues in RAG2 critical for DNA binding by the RAG1-RAG2 complex.

Fugmann SD et al.

Molecular Cell, 2001

Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.

Gomez CA et al.

Molecular and Cellular Biology, 2000

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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."