Varaico: Literature-Extracted Genetic Variants

Gene:ERAP2
Variant:p.K392N
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ERAP2

NM_022350.5:p.K392N

Associated Papers

Defining a genetic background for bamboo spine and axial spondyloarthritis.

Özkaya ŞÇ et al.

Joint Bone Spine, 2025

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Nature Communications, 2025

40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_20

Evolutionary immuno-genetics of endoplasmic reticulum aminopeptidase II (ERAP2).

Raja A et al.

Genes and Immunity, 2023

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_16

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

A genetic polymorphism of IL17F rs763780 associated with anti-E production in the Han Chinese population.

Chen S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2020

Association of ERAP2 gene variants with risk of pre-eclampsia among Iranian women.

Soltani S et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 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

The role of polymorphic ERAP1 in autoinflammatory disease.

Reeves E et al.

Bioscience Reports, 2018

The role of endoplasmic reticulum aminopeptidase 2 in modulating immune detection of choriocarcinoma.

Warthan MD et al.

Biology of Reproduction, 2018

How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins.

López de Castro JA

Frontiers in Immunology, 2018

Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Huang H et al.

Nature, 2017

28658209 (PubMed )
Supplement: NIHMS72714-supplement-Supplementary_Table_1.xlsx › annotation__summary

The Behçet's disease-associated variant of the aminopeptidase ERAP1 shapes a low-affinity HLA-B*51 peptidome by differential subpeptidome processing.

Guasp P et al.

The Journal of Biological Chemistry, 2017

Brief Report: Functional Interaction of Endoplasmic Reticulum Aminopeptidase 2 and HLA-B27 Activates the Unfolded Protein Response.

Zhang Z et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

Molecular and pathogenic effects of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in MHC-I-associated inflammatory disorders: Towards a unifying view.

López de Castro JA et al.

Molecular Immunology, 2016

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-A8-A091-01A.domain

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

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf

Large-scale profiling and identification of potential regulatory mechanisms for allelic gene expression in colorectal cancer cells.

Lee RD et al.

Gene, 2013

Functional interaction of the ankylosing spondylitis-associated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo.

García-Medel N et al.

Molecular & Cellular Proteomics : Mcp, 2012

SNP-based large-scale identification of allele-specific gene expression in human B cells.

Song MY et al.

Gene, 2012

Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation.

Andrés AM et al.

Plos Genetics, 2010

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