Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.S282P
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CPA1

NM_001868.4:p.S282P

Associated Papers

CPA1 S282P mutation leads to chronic pancreatitis in rabbits.

Yang J et al.

Zoological Research, 2025

Familial pancreatitis associated with a splice-site variant in CPA1.

Shen F et al.

Gut, 2025

Strengths and limitations of AlphaMissense in CPA1 missense variant classification.

Wang YH et al.

Gut, 2024

Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis.

Sándor M et al.

Gut, 2024

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.

Yu B et al.

Pediatric Investigation, 2023

Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1).

Sándor M et al.

International Journal of Molecular Sciences, 2022

Misfolding-induced chronic pancreatitis in CPA1 N256K mutant mice is unaffected by global deletion of Ddit3/Chop.

Németh BC et al.

Scientific Reports, 2022

Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update.

Wertheim-Tysarowska K et al.

Genes, 2021

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

Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance.

Németh BC et al.

Gut, 2020

Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Mayerle J et al.

Gastroenterology, 2019

Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.

Hegyi E et al.

Gut, 2019

Evaluation of the Pathogenic Significance of the Novel p.T58M Chymotrypsin C Variant in Recurrent Acute Pancreatitis.

Németh BC et al.

Pancreas, 2019

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 misfolding-dependent pathway.

Sahin-Tóth M

Current Opinion in Gastroenterology, 2017

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Wu H et al.

Human Mutation, 2017

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