Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.D100H
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PRSS1

NM_002769.5:p.D100H

Associated Papers

Frequency of de novo PRSS1 pathogenic variants in a French cohort of idiopathic pancreatitis.

Masson E et al.

Gut, 2025

A Case Report on Protease Serine 1 (PRSS1)-Related Acute Pancreatitis.

Vijayakumar V et al.

Cureus, 2025

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

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Wertheim-Tysarowska K et al.

Genes, 2021

Genetic Abnormalities in Pancreatitis: An Update on Diagnosis, Clinical Features, and Treatment.

Suzuki M et al.

Diagnostics (basel, Switzerland), 2020

Chronic pancreatitis: an update on genetic risk factors.

Weiss FU et al.

Current Opinion in Gastroenterology, 2018

Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Sahin-Tóth M

Current Opinion in Gastroenterology, 2017

Genetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.

Hegyi E et al.

Digestive Diseases and Sciences, 2017

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

Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Németh BC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Schnúr A et al.

Gut, 2014

Characterization of two deletions of the CTRC locus.

Masson E et al.

Molecular Genetics and Metabolism, 2013

Clinical and morphological characteristics of sporadic genetically determined pancreatitis as compared to idiopathic pancreatitis: higher risk of pancreatic cancer in CFTR variants.

Hamoir C et al.

Digestion, 2013

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

An overview of hereditary pancreatitis.

Rebours V et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2012

Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.

Derikx MH et al.

Best Practice & Research. Clinical Gastroenterology, 2010

Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

Szmola R et al.

Journal of Medical Genetics, 2010

Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany.

Weiss FU et al.

The American Journal of Gastroenterology, 2008

Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.

Liu QC et al.

Chinese Medical Journal, 2008

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Teich N et al.

Human Mutation, 2006

A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene.

Pho-Iam T et al.

World Journal of Gastroenterology, 2005

Genetics of pancreatitis.

Keim V

Scandinavian Journal of Surgery : Sjs : Official Organ for the Finnish Surgical Society and the Scandinavian Surgical Society, 2005

[Hereditary pancreatitis].

Nishimori I et al.

Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2004

[A case of chronic pancreatitis in a young woman with the cationic trypsinogen (PRSS1) gene mutation].

Kakinoki K et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2002

Genetics and pancreatic disease.

Schneider A et al.

Current Opinion in Gastroenterology, 2002

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.

Tautermann G et al.

Digestion, 2001

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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."