Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.V251M
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CPA1

NM_001868.4:p.V251M

Associated Papers

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

Shen F et al.

Gut, 2025

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

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

Németh BC et al.

Scientific Reports, 2022

Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis.

Kawamoto M et al.

International Journal of Cancer, 2022

Nationwide survey of hereditary pancreatitis in Japan.

Masamune A et al.

Journal of Gastroenterology, 2018

Genetics of pancreatitis: the 2014 update.

Masamune A

The Tohoku Journal of Experimental Medicine, 2014

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Witt H et al.

Nature Genetics, 2013

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