Varaico: Literature-Extracted Genetic Variants

Gene:BANK1
Variant:p.R61H
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BANK1

NM_017935.5:p.R61H

Associated Papers

Variants in BANK1 are associated with lupus nephritis of European ancestry.

Bolin K et al.

Genes and Immunity, 2021

The Role of BANK1 in B Cell Signaling and Disease.

Gómez Hernández G et al.

Cells, 2021

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Schnappauf O et al.

Pediatric Rheumatology Online Journal, 2021

33892719 (PubMed )
Supplement: 12969_2021_536_MOESM1_ESM.docx

Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population.

Ramírez-Bello J et al.

Frontiers in Genetics, 2020

BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.

Ramírez-Bello J et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2019

Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.

Jiang SH et al.

Nature Communications, 2019

Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population.

Chen S et al.

Clinical Rheumatology, 2019

Trans-Ethnic Mapping of BANK1 Identifies Two Independent SLE-Risk Linkage Groups Enriched for Co-Transcriptional Splicing Marks.

Martínez-Bueno M et al.

International Journal of Molecular Sciences, 2018

Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.

Kontogianni G et al.

Cancers, 2018

29596374 (PubMed )
Supplement: cancers-10-00096-s001.zip › Table_S1.xlsx › S1

Intracellular B Lymphocyte Signalling and the Regulation of Humoral Immunity and Autoimmunity.

Taher TE et al.

Clinical Reviews in Allergy & Immunology, 2017

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.

Demirkaya E et al.

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

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

Association between BANK1 polymorphisms and susceptibility to autoimmune diseases: A meta-analysis.

Bae SC et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2017

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H et al.

Bmc Medical Genomics, 2017

28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf

The BANK1 SLE-risk variants are associated with alterations in peripheral B cell signaling and development in humans.

Dam EM et al.

Clinical Immunology (orlando, Fla.), 2016

The genetic basis of systemic lupus erythematosus: What are the risk factors and what have we learned.

Teruel M et al.

Journal of Autoimmunity, 2016

Association between functional CD24 polymorphisms and susceptibility to autoimmune diseases: A meta-analysis.

Lee YH et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2015

B cells take the front seat: dysregulated B cell signals orchestrate loss of tolerance and autoantibody production.

Jackson SW et al.

Current Opinion in Immunology, 2015

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM6_ESM.xlsx › Sheet1

Advances in lupus genetics and epigenetics.

Deng Y et al.

Current Opinion in Rheumatology, 2014

Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.

J de AS et al.

Current Genomics, 2014

Recent insights into the genetic basis of systemic lupus erythematosus.

Rullo OJ et al.

Annals of the Rheumatic Diseases, 2013

Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.

Génin E et al.

Plos One, 2013

Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways.

Vaughn SE et al.

Journal of Leukocyte Biology, 2012

The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.

Kozyrev SV et al.

Genes and Immunity, 2012

Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.

Castillejo-López C et al.

Annals of the Rheumatic Diseases, 2012

Association analysis of BANK1 gene with psoriasis in Southern Han Chinese.

Zhang X et al.

International Journal of Immunogenetics, 2011

The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis.

Fan Y et al.

International Journal of Immunogenetics, 2011

Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese.

Guan M et al.

Rheumatology (oxford, England), 2011

A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.

Budarf ML et al.

Genes and Immunity, 2011

Genetic susceptibility to systemic lupus erythematosus in the genomic era.

Deng Y et al.

Nature Reviews. Rheumatology, 2010

Role of BANK1 gene polymorphisms in biopsy-proven giant cell arteritis.

Torres O et al.

The Journal of Rheumatology, 2010

Recent advances in the genetics of systemic lupus erythematosus.

Flesher DL et al.

Expert Review of Clinical Immunology, 2010

BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians.

Rueda B et al.

Annals of the Rheumatic Diseases, 2010

BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4.

Dieudé P et al.

Arthritis and Rheumatism, 2009

Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population.

Guo L et al.

Genes and Immunity, 2009

Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese.

Chang YK et al.

Genes and Immunity, 2009

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

Grant SF et al.

The Application of Clinical Genetics, 2009

Genome-wide association studies: a new window into immune-mediated diseases.

Xavier RJ et al.

Nature Reviews. Immunology, 2008

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.

Kozyrev SV et al.

Nature Genetics, 2008

Relevance of systemic lupus erythematosus nephritis animal models to human disease.

Foster MH

Seminars in Nephrology, 1999

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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."