Varaico: Literature-Extracted Genetic Variants

Gene:SPINT2
Variant:p.C47F
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SPINT2

NM_021102.4:p.C47F

Associated Papers

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

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_from_Cys
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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."