Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.G191R
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PRSS1

NM_002769.5:p.G191R

Associated Papers

Comprehensive characterization of early-onset lung cancer, in Chinese young adults.

Tian Y et al.

Nature Communications, 2025

40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results

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

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

Etiology and Risk Factors of Acute and Chronic Pancreatitis.

Weiss FU et al.

Visceral Medicine, 2019

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

Genomic Profiling of a Large Set of Diverse Pediatric Cancers Identifies Known and Novel Mutations across Tumor Spectra.

Chmielecki J et al.

Cancer Research, 2017

Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study.

Dytz MG et al.

Medicine, 2015

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Rosendahl J et al.

Gut, 2013

Genetic basis of chronic pancreatitis in Asia Pacific region.

Reddy DN et al.

Journal of Gastroenterology and Hepatology, 2011

-651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in Japan.

Masamune A et al.

Journal of Gastroenterology, 2010

Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism.

Kereszturi E et al.

Human Mutation, 2009

Role of genetic disorders in acute recurrent pancreatitis.

Keim V

World Journal of Gastroenterology, 2008

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

Masson E et al.

Human Genetics, 2008

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Boulling A et al.

European Journal of Human Genetics : Ejhg, 2007

Is genetic analysis helpful for diagnosing chronic pancreatitis in its early stage?

Naruse S et al.

Journal of Gastroenterology, 2007

Hereditary pancreatitis caused by triplication of the trypsinogen locus.

Le Maréchal C et al.

Nature Genetics, 2006

Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.

Masson E et al.

European Journal of Human Genetics : Ejhg, 2006

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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."