Varaico: Literature-Extracted Genetic Variants

Gene:ATG16L1
Variant:p.T300A
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ATG16L1

NM_030803.7:p.T300A

Associated Papers

NOD2-Related Multisystem Inflammatory Disorders and Recent Advances.

Wu D et al.

Current Rheumatology Reports, 2026

Genomic Insights Into Inflammatory Bowel Disease in United States Hispanic Participants: An Ancestry-Focused Study.

Beecham AH et al.

Gastroenterology, 2026

The IL17REL gene encodes a decoy receptor of IL-17 family cytokines to control gut inflammation.

Li Q et al.

Nature Immunology, 2026

Type I and III interferons synergize with TNF to promote virally-triggered damage to the intestinal epithelium.

Bernard-Raichon L et al.

Biorxiv : the Preprint Server for Biology, 2026

Mitophagy in the pathogenesis and management of disease.

Wang Q et al.

Cell Research, 2026

Atg16l1 and Xbp1 cooperatively protect from transcription-associated mutagenesis and small intestinal carcinogenesis.

Kakavand N et al.

Oncogene, 2025

Population stratified differences between ATG16L1 rs2241880 polymorphism with Crohn's disease risk: a systematic review and meta-analysis.

Gao Y et al.

Bmc Gastroenterology, 2025

Atg16l1 promotes lung transplant tolerance by regulating glycolysis in macrophages.

Cano M et al.

Biorxiv : the Preprint Server for Biology, 2025

Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics.

Kugathasan S et al.

Inflammatory Bowel Diseases, 2025

Balancing immunity: disease risk mutation can be beneficial.

Lin X et al.

Trends in Immunology, 2025

ATG16L1 WD domain and linker regulates lipid trafficking to maintain plasma membrane integrity to limit influenza virus infection.

Bone B et al.

Autophagy, 2025

Heterozygosity for Crohn's disease risk allele of ATG16L1 promotes unique protein interactions and protects against bacterial infection.

Yao X et al.

Immunity, 2025

Gene-Environment Interactions in Inflammatory Bowel Disease: A Systematic Review of Human Epidemiologic Studies.

Bai J et al.

Journal of Crohn's & Colitis, 2025

Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?

Modi R et al.

Current Gastroenterology Reports, 2025

Autophagy-related gene BECN1 single nucleotide polymorphisms in diseases.

Kaur S et al.

Molecular and Cellular Biochemistry, 2025

Inflammatory bowel disease risk gene C1ORF106 regulates actin dynamics in intestinal epithelial cells.

Hébert-Milette I et al.

Biorxiv : the Preprint Server for Biology, 2025

Association between ATG16L1 rs2241880(T300A) and rs4663421 and ANCA‑associated vasculitis in the Guangxi population of China: Propensity score matching analysis.

Tang W et al.

Biomedical Reports, 2025

The Relationship Between CSF1R Signaling, Monocyte-Macrophage Differentiation, and Susceptibility to Inflammatory Bowel Disease.

Hume DA et al.

Cellular and Molecular Gastroenterology and Hepatology, 2025

The role of ATG16L1 in Crohn's disease and the structural alteration mechanisms and functional consequences of the rs2241880 variant.

Ren S et al.

Frontiers in Medicine, 2025

Deciphering the immunocellular regulatory network in inflammatory bowel disease: from susceptibility genes to cellular effectors and toward precision therapies.

Wu Z et al.

Frontiers in Immunology, 2025

ZDHHC7-mediated S-palmitoylation of ATG16L1 facilitates LC3 lipidation and autophagosome formation.

Wei F et al.

Autophagy, 2024

Endoplasmic reticulum stress in diseases.

Liu Y et al.

Medcomm, 2024

Impaired reprogramming of the autophagy flux in maturing dendritic cells from crohn disease patients with core autophagy gene-related polymorphisms.

Quiniou G et al.

Autophagy, 2024

Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.

Herbert A

Genes and Immunity, 2024

Autophagy-enhancing ATG16L1 polymorphism is associated with improved clinical outcome and T-cell immunity in chronic HIV-1 infection.

Schreurs RRCE et al.

Nature Communications, 2024

The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease.

O'Brien CL et al.

Human Genetics, 2024

Autophagy in colitis-associated colon cancer: exploring its potential role in reducing initiation and preventing IBD-Related CAC development.

Jin X et al.

Autophagy, 2024

ATG16L1 rs2241880/T300A increases susceptibility to perianal Crohn's disease: An updated meta-analysis on inflammatory bowel disease risk and clinical outcomes.

Simovic I et al.

United European Gastroenterology Journal, 2024

Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer.

Bali JS et al.

Molecular Biology Reports, 2024

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Toll-like receptor 7 protects against intestinal inflammation and restricts the development of colonic tissue-resident memory CD8+ T cells.

Hamade H et al.

Frontiers in Immunology, 2024

Tumor-intrinsic expression of the autophagy gene Atg16l1 suppresses anti-tumor immunity in colorectal cancer.

Taraborrelli L et al.

Nature Communications, 2023

Association of PNPLA3 (rs738409) & TM6SF2 (rs58542926) and ATG16L1 (rs2241880) genetic variants with susceptibility to hepatocellular carcinoma in a group of Egyptian patients with HCV-induced liver cirrhosis.

Mohamed Fteah A et al.

Tumour Virus Research, 2023

Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients.

Wu Y et al.

Nature Communications, 2023

Current Status and Future Prospects of Inflammatory Bowel Disease Genetics.

Kakuta Y et al.

Digestion, 2023

ATG16L1 WD40 domain-dependent IL10R (interleukin 10 receptor) signaling is insensitive to the T300A Crohn disease risk polymorphism.

Serramito-Gómez I et al.

Autophagy, 2022

The Crohn Disease-associated ATG16L1T300A polymorphism regulates inflammatory responses by modulating TLR- and NLR-mediated signaling.

Gao P et al.

Autophagy, 2022

Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.

Grosjean I et al.

Autophagy, 2022

CASK loss of function differentially regulates neuronal maturation and synaptic function in human induced cortical excitatory neurons.

McSweeney D et al.

Iscience, 2022

36262316 (PubMed )
Supplement: mmc3.xlsx › day_7_ALL_ToppGene

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM2_ESM.xlsx › Literature_review_table

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Genetic Analysis of the ATG16L1 c.898A>G (p.T300A) Variant in Acute and Chronic Pancreatitis.

Neubauer C et al.

Pancreas, 2022

The γδ IEL effector API5 masks genetic susceptibility to Paneth cell death.

Matsuzawa-Ishimoto Y et al.

Nature, 2022

Association of ATG16L1 rs2241880 and TP53 rs1042522 with characteristics and course of diffuse large B-cell lymphoma.

Živanović A et al.

Pathology, Research and Practice, 2022

Alterations of autophagic and innate immune responses by the Crohn's disease-associated ATG16L1 mutation.

Okai N et al.

World Journal of Gastroenterology, 2022

Association of IRGM gene promoter polymorphisms with hepatitis B virus infection.

Sharma A et al.

The Journal of Gene Medicine, 2022

1–50 of 316 papers
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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."