Varaico: Literature-Extracted Genetic Variants

Gene:AP1S3
Variant:p.R33W
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AP1S3

NM_001039569.2:p.R33W

Associated Papers

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

The Role of Genetics on Psoriasis Susceptibility, Comorbidities, and Treatment Response.

Bui A et al.

Dermatologic Clinics, 2024

Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis.

Atschekzei F et al.

Rmd Open, 2022

Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Sugiura K

Dermatology and Therapy, 2022

An update on genetic basis of generalized pustular psoriasis (Review).

Zhou J et al.

International Journal of Molecular Medicine, 2021

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.

Vergnano M et al.

American Journal of Human Genetics, 2020

Coatopathies: Genetic Disorders of Protein Coats.

Dell'Angelica EC et al.

Annual Review of Cell and Developmental Biology, 2019

Clinical and genetic differences between pustular psoriasis subtypes.

Twelves S et al.

The Journal of Allergy and Clinical Immunology, 2019

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production.

Mahil SK et al.

The Journal of Investigative Dermatology, 2016

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

Newly recognized Mendelian disorders with rheumatic manifestations.

de Jesus AA et al.

Current Opinion in Rheumatology, 2015

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-A0ER-01A.domain

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

Setta-Kaffetzi N et al.

American Journal of Human Genetics, 2014

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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."