Varaico: Literature-Extracted Genetic Variants

Gene:RAG1
Variant:p.E365E
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RAG1

NM_000448.3:p.E365E

Associated Papers

Data on the evolutionary history of the V(D)J recombination-activating protein 1 - RAG1 coupled with sequence and variant analyses.

Kumar A et al.

Data in Brief, 2016

27284568 (PubMed )
Supplement: mmc2.pdf

Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2015

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

Karaca NE et al.

Clinical and Experimental Medicine, 2009

Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome.

Simkus C et al.

Journal of Immunology (baltimore, Md. : 1950), 2007

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Villa A et al.

Blood, 2001

The genetic and biochemical basis of Omenn syndrome.

Santagata S et al.

Immunological Reviews, 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."