Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.N154S
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NT5C2

NM_001351169.2:p.N154S

Associated Papers

Interferons in human inborn errors of disease.

Stine L et al.

Mbio, 2025

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

Poddar S et al.

Cell, 2025

Response to two Janus kinase inhibitors in a boy with SAVI during 2-year follow-up: case report and literature review.

Chen Y et al.

Frontiers in Immunology, 2025

Intracellular Sensing of DNA in Autoinflammation and Autoimmunity.

MacLauchlan S et al.

Arthritis & Rheumatology (hoboken, N.j.), 2022

MITA/STING-mediated antiviral immunity and autoimmunity: the evolution, mechanism, and intervention.

Zhong B et al.

Current Opinion in Immunology, 2022

Golgi apparatus-synthesized sulfated glycosaminoglycans mediate polymerization and activation of the cGAMP sensor STING.

Fang R et al.

Immunity, 2021

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

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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."