Varaico: Literature-Extracted Genetic Variants

Gene:CTRC
Variant:p.R246_R254del0
Back to variants list

CTRC

NM_007272.3:p.R246_R254del0

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.

Abu-El-Haija M et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024

Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.

Dermine S et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

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

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

Chen JM et al.

Genes, 2021

33806082 (PubMed )
Supplement: genes-12-00471-s001.pdf

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

Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.

Cichoż-Lach H et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2019

Genetic Alterations of Periampullary and Pancreatic Ductal Adenocarcinoma: An Overview.

Sikdar N et al.

Current Genomics, 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

Genetic susceptibility factors for alcohol-induced chronic pancreatitis.

Aghdassi AA et al.

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

Genetics of acute and chronic pancreatitis: An update.

Ravi Kanth V et al.

World Journal of Gastrointestinal Pathophysiology, 2014

Genetics of pancreatitis: the 2014 update.

Masamune A

The Tohoku Journal of Experimental Medicine, 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

Genetics of pancreatitis: a guide for clinicians.

Witt H

Digestive Diseases (basel, Switzerland), 2010

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

Kereszturi E et al.

Human Mutation, 2009

Genetic aspects of tropical calcific pancreatitis.

Witt H et al.

Reviews in Endocrine & Metabolic Disorders, 2008

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

Masson E et al.

Human Genetics, 2008

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Rosendahl J et al.

Nature Genetics, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."