Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.S200A
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PRSS1

NM_002769.5:p.S200A

Associated Papers

Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.

Sándor M et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025

Structural and Biophysical Insights into SPINK1 Bound to Human Cationic Trypsin.

Nagel F et al.

International Journal of Molecular Sciences, 2022

Novel Pathogenic PRSS1 Variant p.Glu190Lys in a Case of Chronic Pancreatitis.

Jancsó Z et al.

Frontiers in Genetics, 2019

Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants.

Geisz A et al.

The Febs Journal, 2013

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis.

Joergensen MT et al.

Pancreas, 2011

Intracellular autoactivation of human cationic trypsinogen mutants causes reduced trypsinogen secretion and acinar cell death.

Kereszturi E et al.

The Journal of Biological Chemistry, 2009

The tetra-aspartate motif in the activation peptide of human cationic trypsinogen is essential for autoactivation control but not for enteropeptidase recognition.

Nemoda Z et al.

The Journal of Biological Chemistry, 2005

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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."