Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.I42M
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SPINK1

NM_001379610.1:p.I42M

Associated Papers

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.

Wang YC et al.

American Journal of Human Genetics, 2025

Prevalence of germline variants in Brazilian pancreatic carcinoma patients.

Rodrigues LM et al.

Scientific Reports, 2024

39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Wu H et al.

Human Genomics, 2024

Inhibition of mouse trypsin isoforms by SPINK1 and effect of human pancreatitis-associated mutations.

Morales Granda NC 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

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

Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay.

Wu H et al.

Genes, 2017

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

Hegyi E et al.

Digestive Diseases and Sciences, 2017

Genetic and electrophysiological characteristics of recurrent acute pancreatitis.

Werlin S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2015

Defective binding of SPINK1 variants is an uncommon mechanism for impaired trypsin inhibition in chronic pancreatitis.

Szabó A et al.

The Journal of Biological Chemistry, 0

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