Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.D312A
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AIRE

NM_000383.4:p.D312A

Associated Papers

High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.

Berger AH et al.

Frontiers in Immunology, 2025

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

Extended HSR/CARD domain mediates AIRE binding to DNA.

Maslovskaja J et al.

Biochemical and Biophysical Research Communications, 2015

AIRE activated tissue specific genes have histone modifications associated with inactive chromatin.

Org T et al.

Human Molecular Genetics, 2009

The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation.

Chignola F et al.

Nucleic Acids Research, 2009

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."