Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.G60G
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CTRC

NM_007272.3:p.G60G

Associated Papers

Pancreatitis-associated chymotrypsin C (CTRC) variant p.R240Q selectively impairs trypsinogen degradation through disruption of long-range electrostatic interactions.

Nagy ZA et al.

Scientific Reports, 2026

Hereditary pancreatitis with a N29I mutation in the PRSS1 (Trypsinogen) gene: A case report from India.

Rodrigues M et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2025

Engineering mouse chymotrypsin B1 for improved trypsinogen degradation.

Morales Granda NC et al.

Scientific Reports, 2025

Sequence analysis of the 5' region of the chymotrypsin C (CTRC) gene in chronic pancreatitis.

Karamya ZA et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025

Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis.

Berke G et al.

Scientific Reports, 2024

Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases.

Stefanovics R et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024

Genetic Investigations in Turkish Idiopathic Pancreatitis Patients Show Unique Characteristics.

Baş H et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023

Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis.

Berke G et al.

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

Spectrum of PRSS1, SPINK1, CTRC, CFTR, and CPA1 Gene Variants in Chronic Pancreatitis Patients in Russia.

Litvinova MM et al.

Sovremennye Tekhnologii V Meditsine, 2023

Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis.

Takáts A et al.

Plos One, 2022

Cigarette smoke toxin hydroquinone and misfolding pancreatic lipase variant cooperatively promote endoplasmic reticulum stress and cell death.

Kassay N et al.

Plos One, 2022

Pancreas Divisum Increases the Risk of Recurrent Acute Pancreatitis in Patients with rs12338 Polymorphism in the Cathepsin B Gene.

Talukdar R et al.

Digestive Diseases and Sciences, 2021

Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.

Chen JM et al.

Genes, 2021

The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.

Burgos M et al.

Journal of Cell Science, 2021

Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis.

Nabi Z et al.

Digestive Diseases and Sciences, 2020

Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.

Girodon E et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020

SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.

Zou WB et al.

Clinical and Translational Gastroenterology, 2018

Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.

Rosendahl J et al.

Gut, 2018

28754779 (PubMed )
Supplement: gutjnl-2017-314454supp001.pdf

Genetic predisposition in pancreatitis.

Gonska T

Current Opinion in Pediatrics, 2018

Common variants in the CLDN2-MORC4 and PRSS1-PRSS2 loci confer susceptibility to acute pancreatitis.

Weiss FU et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2018

PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype.

Avanthi US et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2018

Chymotrypsinogen C Genetic Variants, Including c.180TT, Are Strongly Associated With Chronic Pancreatitis in Pediatric Patients.

Grabarczyk AM et al.

Journal of Pediatric Gastroenterology and Nutrition, 2017

Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis.

Németh BC et al.

Gut, 2017

A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis.

Kujko AA et al.

Gut, 2017

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

Hegyi E et al.

Digestive Diseases and Sciences, 2017

CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.

Koziel D et al.

Bmc Gastroenterology, 2017

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

Tomaiuolo AC et al.

The Journal of Molecular Diagnostics : Jmd, 2015

The Common Chymotrypsinogen C (CTRC) Variant G60G (C.180T) Increases Risk of Chronic Pancreatitis But Not Recurrent Acute Pancreatitis in a North American Population.

LaRusch J et al.

Clinical and Translational Gastroenterology, 2015

Chronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.

Hegyi E et al.

Jop : Journal of the Pancreas, 2014

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

Paliwal S et al.

Gut, 2013

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.

Beer S et al.

Gut, 2013

Identification of novel missense CTRC variants in Japanese patients with chronic pancreatitis.

Masamune A et al.

Gut, 2013

Chymotrypsin C mutations in chronic pancreatitis.

Zhou J et al.

Journal of Gastroenterology and Hepatology, 2011

The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.

Grocock CJ et al.

Gut, 2010

Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants.

Derikx MH et al.

European Journal of Gastroenterology & Hepatology, 2009

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

Masson E et al.

Human Genetics, 2008

Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

Hrčková G et al.

Nefrologia, 0

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