Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.D22A
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PRSS1

NM_002769.5:p.D22A

Associated Papers

Hereditary Pancreatitis-25 Years of an Evolving Paradigm: Frank Brooks Memorial Lecture 2021.

Sahin-Tóth M

Pancreas, 2022

Evolutionary expansion of polyaspartate motif in the activation peptide of mouse cationic trypsinogen limits autoactivation and protects against pancreatitis.

Orekhova A et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2021

Engineering mouse cationic trypsinogen for rapid and selective activation by cathepsin B.

Demcsák A et al.

Scientific Reports, 2019

Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis.

Balázs A et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2016

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."