Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.K374E
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CPA1

NM_001868.4:p.K374E

Associated Papers

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

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

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

Sándor M et al.

Gut, 2024

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

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

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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."