Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.R127P
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ERAP1

NM_001040458.3:p.R127P

Associated Papers

The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.

Loeliger J et al.

Investigative Ophthalmology & Visual Science, 2026

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review.

Zormpa T et al.

Journal of Clinical Medicine, 2025

Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events.

Machha P et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.

Li X et al.

Molecular Genetics & Genomic Medicine, 2024

The Role of Aminopeptidase ERAP1 in Human Pathology-A Review.

Țiburcă L et al.

Current Issues in Molecular Biology, 2024

Association of ERAP1 and ERAP2 gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population.

Kril I et al.

Frontiers in Immunology, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

H3.3K27M mutation is not a suitable target for immunotherapy in HLA-A2+ patients with diffuse midline glioma.

Immisch L et al.

Journal for Immunotherapy of Cancer, 2022

36302563 (PubMed )
Supplement: jitc-2022-005535supp001.pdf

Functional ERAP1 Variants Distinctively Associate with Ankylosing Spondylitis Susceptibility under the Influence of HLA-B27 in Taiwanese.

Wang CM et al.

Cells, 2022

Interaction between ERAP Alleles and HLA Class I Types Support a Role of Antigen Presentation in Hodgkin Lymphoma Development.

Jiang P et al.

Cancers, 2021

33499248 (PubMed )
Supplement: cancers-13-00414-s001.pdf

Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.

Zheng X et al.

The Journal of Rheumatology, 2020

Endoplasmic reticulum aminopeptidase 1 polymorphism Ile276Met is associated with atopic dermatitis and affects the generation of an HLA-C associated antigenic epitope in vitro.

Niepiekło-Miniewska W et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

ERAP, KIR and HLA-C gene interaction in susceptibility to recurrent spontaneous abortion in the Polish population.

Wilczyńska K et al.

Human Immunology, 2019

Association Study of Single Nucleotide Polymorphisms of Endoplasmic Reticulum Aminopeptidase 1 and 2 Genes in Iranian Women with Preeclampsia.

Dargahi H et al.

Iranian Journal of Public Health, 2019

Association of ERAP1 gene polymorphisms with the susceptibility to psoriasis vulgaris: A case-control study.

Fu Y et al.

Medicine, 2018

The role of polymorphic ERAP1 in autoinflammatory disease.

Reeves E et al.

Bioscience Reports, 2018

Ranking the Contribution of Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphisms to Shaping the HLA-B*27 Peptidome.

Sanz-Bravo A et al.

Molecular & Cellular Proteomics : Mcp, 2018

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Associations of ERAP1 coding variants and domain specific interaction with HLA-C∗06 in the early onset psoriasis patients of India.

Das A et al.

Human Immunology, 2017

Bioinformatics analysis of genetic variants of endoplasmic reticulum aminopeptidase 1 in ankylosing spondylitis.

Wang X et al.

Molecular Medicine Reports, 2017

Separate effects of the ankylosing spondylitis associated ERAP1 and ERAP2 aminopeptidases determine the influence of their combined phenotype on the HLA-B*27 peptidome.

Martín-Esteban A et al.

Journal of Autoimmunity, 2017

Critical Role of Interdomain Interactions in the Conformational Change and Catalytic Mechanism of Endoplasmic Reticulum Aminopeptidase 1.

Stamogiannos A et al.

Biochemistry, 2017

ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.

Roberts AR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Cervical Carcinogenesis and Immune Response Gene Polymorphisms: A Review.

Mehta AM et al.

Journal of Immunology Research, 2017

Single Nucleotide Polymorphisms of the ERAP1 Gene and Risk of NSCLC: A Comparison of Genetically Distant Populations, Chinese and Caucasian.

Yao Y et al.

Archivum Immunologiae Et Therapiae Experimentalis, 2016

The association of endoplasmic reticulum aminopeptidase-1 (ERAP-1) with Familial Mediterranean Fever (FMF).

Sezgin G et al.

United European Gastroenterology Journal, 2016

Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.

Alvarez-Navarro C et al.

Molecular & Cellular Proteomics : Mcp, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Differences in genetic variation in antigen-processing machinery components and association with cervical carcinoma risk in two Indonesian populations.

Mehta AM et al.

Immunogenetics, 2015

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

Dominant role of the ERAP1 polymorphism R528K in shaping the HLA-B27 Peptidome through differential processing determined by multiple peptide residues.

Sanz-Bravo A et al.

Arthritis & Rheumatology (hoboken, N.j.), 2015

Lessons and implications from association studies and post-GWAS analyses of cervical cancer.

Chen D et al.

Trends in Genetics : Tig, 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-A04Y-01A.domain

Combined effects of ankylosing spondylitis-associated ERAP1 polymorphisms outside the catalytic and peptide-binding sites on the processing of natural HLA-B27 ligands.

Martín-Esteban A et al.

The Journal of Biological Chemistry, 2014

A large-scale screen for coding variants predisposing to psoriasis.

Tang H et al.

Nature Genetics, 2014

A role for naturally occurring alleles of endoplasmic reticulum aminopeptidases in tumor immunity and cancer pre-disposition.

Stratikos E et al.

Frontiers in Oncology, 2014

ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.

Alvarez-Navarro C et al.

Current Opinion in Rheumatology, 2013

Genetic association with ERAP1 in psoriasis is confined to disease onset after puberty and not dependent on HLA-C*06.

Lysell J et al.

The Journal of Investigative Dermatology, 2013

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