Varaico: Literature-Extracted Genetic Variants

Gene:PTPN2
Variant:p.C216S
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PTPN2

NM_002828.4:p.C216S

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

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

Proteasome regulation by reversible tyrosine phosphorylation at the membrane.

Chen L et al.

Oncogene, 2021

Negative regulation of T cell antigen receptor signal transduction by hematopoietic tyrosine phosphatase (HePTP).

Saxena M et al.

The Journal of Biological Chemistry, 1998

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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."