Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.D297A
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AIRE

NM_000383.4:p.D297A

Associated Papers

Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression with Alopecia Areata in Males: A Case-control Study.

Toraih EA et al.

Immunological Investigations, 2020

31601134 (PubMed )
Supplement: supplement_1.pdf

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Oftedal BE et al.

Immunity, 2015

AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome.

Gaetani M et al.

Nucleic Acids Research, 2012

Unmodified histone H3K4 and DNA-dependent protein kinase recruit autoimmune regulator to target genes.

Žumer K et al.

Molecular and Cellular Biology, 2012

The autoimmune regulator PHD finger binds to non-methylated histone H3K4 to activate gene expression.

Org T et al.

Embo Reports, 2008

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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."