Varaico: Literature-Extracted Genetic Variants

Gene:PRSS2
Variant:p.R122C
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PRSS2

NM_002770.4:p.R122C

Associated Papers

Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Wang W et al.

Bmj Open, 2013

24002981 (PubMed )
Supplement: bmjopen-2013-003150.draft_revisions.pdf

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C.

Szabó A et al.

The Journal of Biological Chemistry, 2012

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

Szmola R et al.

Journal of Medical Genetics, 2010

Advances in the etiology of chronic pancreatitis.

Lerch MM et al.

Digestive Diseases (basel, Switzerland), 2010

Genetics of pancreatitis: a guide for clinicians.

Witt H

Digestive Diseases (basel, Switzerland), 2010

Genetic aspects of tropical calcific pancreatitis.

Witt H et al.

Reviews in Endocrine & Metabolic Disorders, 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

Cationic trypsinogen mutations and pancreatitis.

Howes N et al.

Gastroenterology Clinics of North America, 2004

Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2).

Teich N et al.

Human Mutation, 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

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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."