Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.L26V
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CTSB

NM_001908.5:p.L26V

Associated Papers

Pathologically relevant trypsinogen activation in pancreatitis.

Geisz-Fremy A

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2026

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

[194 + 2T>C;-215G>A] mutation of SPINK1 gene is associated with fibrocalculous pancreatic diabetes: A rare case report.

Li Y et al.

Medicine, 2025

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Prasad H et al.

Human Molecular Genetics, 2024

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

Association of AXIN1 rs12921862 C/A and rs1805105 G/A and CTSB rs12898 G/A polymorphisms with papillary thyroid carcinoma: A case-control study.

Saljooghi S et al.

Journal of Clinical Laboratory Analysis, 2023

Pancreas Divisum Increases the Risk of Recurrent Acute Pancreatitis in Patients with rs12338 Polymorphism in the Cathepsin B Gene.

Talukdar R et al.

Digestive Diseases and Sciences, 2021

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM15_ESM.xlsx › Supplementary_Data_12

Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.

Secolin R et al.

Frontiers in Genetics, 2021

33841501 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Data_2

Genetic polymorphisms of Cathepsin B are associated with gastric cancer risk and prognosis in a Chinese population.

Ma X et al.

Cancer Biomarkers : Section a of Disease Markers, 2021

Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis.

Nabi Z et al.

Digestive Diseases and Sciences, 2020

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1

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

Wang W et al.

Clinical and Translational Gastroenterology, 2020

Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Yasukochi Y et al.

Molecular Genetics & Genomic Medicine, 2019

Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three‑generation family with endometriosis.

Albertsen HM et al.

Molecular Medicine Reports, 2019

Structural, functional and molecular dynamics analysis of cathepsin B gene SNPs associated with tropical calcific pancreatitis, a rare disease of tropics.

Singh G et al.

Peerj, 2019

Identification of nine novel loci related to hematological traits in a Japanese population.

Yasukochi Y et al.

Physiological Genomics, 2018

Mutation burden profile in familial Alzheimer's disease cases from India.

Syama A et al.

Neurobiology of Aging, 2018

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

Xiao Y et al.

The Journal of Pediatrics, 2017

Association Analysis of PRSS1-PRSS2 and CLDN2-MORC4 Variants in Nonalcoholic Chronic Pancreatitis Using Tropical Calcific Pancreatitis as Model.

Paliwal S et al.

Pancreas, 2016

Association of claudin2 and PRSS1-PRSS2 polymorphisms with idiopathic recurrent acute and chronic pancreatitis: A case-control study from India.

Avanthi SU et al.

Journal of Gastroenterology and Hepatology, 2015

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G et al.

Autophagy, 2015

26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Genetics of acute and chronic pancreatitis: An update.

Ravi Kanth V et al.

World Journal of Gastrointestinal Pathophysiology, 2014

A4383C and C76G SNP in Cathepsin B is respectively associated with the high risk and tumor size of hepatocarcinoma.

Chen TP et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Transcriptome analysis of the gill of Takifugu rubripes using Illumina sequencing for discovery of SNPs.

Cui J et al.

Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics, 2014

Frequency of CFTR, SPINK1, and cathepsin B gene mutation in North Indian population: connections between genetics and clinical data.

Singh S et al.

Thescientificworldjournal, 2014

Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.

Paliwal S et al.

Gut, 2013

Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer.

Chen MK et al.

Human Genetics, 2012

Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE).

Hobbs A et al.

Journal of Dermatological Science, 2012

Genetic basis of chronic pancreatitis in Asia Pacific region.

Reddy DN et al.

Journal of Gastroenterology and Hepatology, 2011

-651C/T promoter polymorphism in the CD14 gene is associated with severity of acute pancreatitis in Japan.

Masamune A et al.

Journal of Gastroenterology, 2010

Genomics of complex disorders I.

Unknown Author

Genomic Medicine, 2008

Genetic aspects of tropical calcific pancreatitis.

Witt H et al.

Reviews in Endocrine & Metabolic Disorders, 2008

TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes.

Mahurkar S et al.

Bmc Medical Genetics, 2008

Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis.

Sellick GS et al.

Blood, 2008

Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population.

Engert JC et al.

European Journal of Human Genetics : Ejhg, 2008

Comprehensive screening for reg1alpha gene rules out association with tropical calcific pancreatitis.

Mahurkar S et al.

World Journal of Gastroenterology, 2007

Cathepsin B gene polymorphism Val26 is not associated with idiopathic chronic pancreatitis in European patients.

Weiss FU et al.

Gut, 2007

Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis.

Mahurkar S et al.

Gut, 2006

Germline mutations and gene polymorphism associated with human pancreatitis.

Weiss FU et al.

Endocrinology and Metabolism Clinics of North America, 2006

Polymorphism L26V in the cathepsin B gene may be associated with a risk of prostate cancer and differentiation.

Stiblar-Martincic D et al.

The Journal of International Medical Research, 0

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