Varaico: Literature-Extracted Genetic Variants

Gene:PTPN2
Variant:p.C216G
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PTPN2

NM_002828.4:p.C216G

Associated Papers

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

Jeanpierre M et al.

The Journal of Experimental Medicine, 2024

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency.

Roppelt A et al.

Frontiers in Immunology, 2024

A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.

Awwad J et al.

Journal of Genetics, 2023

Structural characterization of a pathogenic mutant of human protein tyrosine phosphatase PTPN2 (Cys216Gly) that causes very early onset autoimmune enteropathy.

Nian Q et al.

Protein Science : a Publication of the Protein Society, 2022

Hereditable variants of classical protein tyrosine phosphatase genes: Will they prove innocent or guilty?

Hendriks WJAJ et al.

Frontiers in Cell and Developmental Biology, 2022

T cell protein tyrosine phosphatase protects intestinal barrier function by restricting epithelial tight junction remodeling.

Marchelletta RR et al.

The Journal of Clinical Investigation, 2021

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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."