Varaico: Literature-Extracted Genetic Variants

Gene:SPINT2
Variant:p.R143L
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SPINT2

NM_021102.4:p.R143L

Associated Papers

SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.

Huang N et al.

Human Molecular Genetics, 2024

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

Holt-Danborg L et al.

Human Molecular Genetics, 2019

HAI-2 stabilizes, inhibits and regulates SEA-cleavage-dependent secretory transport of matriptase.

Nonboe AW et al.

Traffic (copenhagen, Denmark), 2017

Functional characterization of Kunitz domains in hepatocyte growth factor activator inhibitor type 2.

Qin L et al.

Febs Letters, 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."