Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.V123M
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PRSS1

NM_002769.5:p.V123M

Associated Papers

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Masson E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2023

Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.

Lai X et al.

Cancer Medicine, 2023

36325957 (PubMed )
Supplement: CAM4-12-6009-s003.xlsx › Table_S2

PRSS1 mutation: a possible pathomechanism of pancreatic carcinogenesis and pancreatic cancer.

Liu Q et al.

Molecular Medicine (cambridge, Mass.), 2019

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

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

A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site.

Felderbauer P et al.

Journal of Medical Genetics, 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

Histopathological features of patients with chronic pancreatitis due to mutations in the PRSS1 gene: evaluation of BRAF and KRAS2 mutations.

Felderbauer P et al.

Digestion, 2008

Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis.

Räty S et al.

Scandinavian Journal of Gastroenterology, 2007

Genetic background of pancreatitis.

Hirota M et al.

Postgraduate Medical Journal, 2006

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S et al.

Pancreas, 2006

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

Teich N et al.

Human Mutation, 2006

Trypsinogen mutations in pancreatic disorders.

Vitone LJ et al.

Endocrinology and Metabolism Clinics of North America, 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

Hereditary pancreatitis: clinical characteristics and diagnostic criteria in Japan.

Otsuki M et al.

Pancreas, 2004

[Hereditary pancreatitis].

Martínez Sempere J et al.

Gastroenterologia Y Hepatologia, 2004

Genetic testing in chronic pancreatitis.

Tazelaar JP et al.

Expert Review of Molecular Diagnostics, 2003

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.

Bernardino AL et al.

Jop : Journal of the Pancreas, 2003

Chronic pancreatitis and cystic fibrosis.

Witt H

Gut, 2003

[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

Genetic basis of chronic pancreatitis.

Jansen JB et al.

Scandinavian Journal of Gastroenterology. Supplement, 2002

Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.

Chen JM et al.

Human Genetics, 2001

Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis.

Chen JM et al.

Clinical Genetics, 2001

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

Tautermann G et al.

Digestion, 2001

Molecular basis of hereditary pancreatitis.

Chen JM et al.

European Journal of Human Genetics : Ejhg, 2000

[Genetic testing for acute or chronic pancreatitis].

Maire F

Gastroenterologie Clinique Et Biologique, 0

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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."