Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.S127C
Back to variants list

PRSS1

NM_002769.5:p.S127C

Associated Papers

Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.

Sándor M et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2025

Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN study group.

Masson E et al.

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

A rare PRSS1 p.S127C mutation is associated with chronic pancreatitis and causes misfolding-induced ER-stress.

Thiel F et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022

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."