Varaico: Literature-Extracted Genetic Variants

Gene:SOCS1
Variant:p.P123R
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SOCS1

NM_003745.2:p.P123R

Associated Papers

CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.

Kandoor A et al.

Biorxiv : the Preprint Server for Biology, 2025

Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

Jeanpierre M et al.

The Journal of Experimental Medicine, 2024

39028869 (PubMed )
Supplement: JEM_20232337_TableS4.xlsx › Table._Supp4

Case Report: Common variable immunodeficiency phenotype and granulomatous-lymphocytic interstitial lung disease with a novel SOCS1 variant.

Caldirola MS et al.

Frontiers in Pediatrics, 2024

IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency.

Gruber C et al.

Journal of Clinical Immunology, 2023

SOCS, SPRED, and NR4a: Negative regulators of cytokine signaling and transcription in immune tolerance.

Yoshimura A et al.

Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2021

One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency.

Körholz J et al.

Frontiers in Immunology, 2021

Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Hadjadj J et al.

Nature Communications, 2020

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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."