Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.T137M
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PRSS1

NM_002769.5:p.T137M

Associated Papers

Genetic Association in Immunoglobulin G4-Related Disease: A Systematic Review.

Hei Lai KK et al.

International Archives of Allergy and Immunology, 2025

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Xu J et al.

Embo Molecular Medicine, 2025

40926052 (PubMed )
Supplement: 44321_2025_302_MOESM1_ESM.xls › ____

PRSS1, SPINK1 Mutations and Associated Factors in Vietnamese Patients With Chronic Pancreatitis.

Vo TTL et al.

Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2025

Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.

Li T et al.

Cancer Medicine, 2024

38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children.

Cheema HA et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2023

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

Integrative genomic analysis of drug resistance in MET exon 14 skipping lung cancer using patient-derived xenograft models.

Xu Y et al.

Frontiers in Oncology, 2022

Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd02.xlsx › Table_S2

Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.

Wang W et al.

Clinical and Translational Gastroenterology, 2020

Spatial Distance Correlates With Genetic Distance in Diffuse Glioma.

Gates EDH et al.

Frontiers in Oncology, 2019

31417865 (PubMed )
Supplement: Data_Sheet_2.xlsx › Table_S1

Targeted Gene Next-Generation Sequencing in Chinese Children with Chronic Pancreatitis and Acute Recurrent Pancreatitis.

Xiao Y et al.

The Journal of Pediatrics, 2017

PRSS1 mutations and the proteinase/antiproteinase imbalance in the pathogenesis of pancreatic cancer.

Yi Q et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

Application of molecular imaging combined with genetic screening in diagnosing MELAS, diabetes and recurrent pancreatitis.

Zhiping W et al.

Folia Neuropathologica, 2016

Human cationic trypsinogen but not serine peptidase inhibitor, Kazal type 1 variants increase the risk of type 1 autoimmune pancreatitis.

Chang MC et al.

Journal of Gastroenterology and Hepatology, 2014

Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis.

Németh BC et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2014

Functional effects of 13 rare PRSS1 variants presumed to cause chronic pancreatitis.

Schnúr A et al.

Gut, 2014

Mutations in PRSS1 put into perspective.

Sand PG

International Journal of Medical Sciences, 2014

Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study.

Wang W et al.

Bmj Open, 2013

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Genetic factors in chronic pancreatitis; implications for diagnosis, management and prognosis.

Derikx MH et al.

Best Practice & Research. Clinical Gastroenterology, 2010

Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

Szmola R et al.

Journal of Medical Genetics, 2010

Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects.

Chang YT et al.

Gut, 2009

Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany.

Weiss FU et al.

The American Journal of Gastroenterology, 2008

Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis.

Liu QC et al.

Chinese Medical Journal, 2008

The consensus coding sequences of human breast and colorectal cancers.

Sjöblom T et al.

Science (new York, N.y.), 2006

16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S et al.

Pancreas, 2006

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.

Bernardino AL et al.

Jop : Journal of the Pancreas, 2003

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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."