Varaico: Literature-Extracted Genetic Variants

Gene:SPINT2
Variant:p.F161C
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SPINT2

NM_021102.4:p.F161C

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

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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."