Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.S241I
Back to variants list

AIRE

NM_000383.4:p.S241I

Associated Papers

Systematic and proactive evaluation of AIRE missense variant effects.

Axakova A et al.

Biorxiv : the Preprint Server for Biology, 2025

41332640 (PubMed )
Supplement: media-2.xlsx › APS-1_patient_cohort

Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.

Jafarpour S et al.

Journal of Neurology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."