Varaico: Literature-Extracted Genetic Variants

Gene:ERVFRD-1
Variant:p.N154S
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ERVFRD-1

NM_207582.3:p.N154S

Associated Papers

ArfGAP2 promotes STING proton channel activity, cytokine transit, and autoinflammation.

Poddar S et al.

Cell, 2025

Treatment of STING-associated vasculopathy with onset in infancy in patients carrying a novel mutation in the TMEM173 gene with the JAK3-inhibitor tofacitinib.

Tokgun PE et al.

Archives of Rheumatology, 2023

TMEM173 variants and potential importance to human biology and disease.

Patel S et al.

Genes and Immunity, 2019

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

Melki I et al.

The Journal of Allergy and Clinical Immunology, 2017

Interaction studies and alanine scanning analysis of a semi-synthetic split intein reveal thiazoline ring formation from an intermediate of the protein splicing reaction.

Ludwig C et al.

The Journal of Biological Chemistry, 2008

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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."