Varaico: Literature-Extracted Genetic Variants

Gene:RSAD2
Variant:p.Y85C
Back to variants list

RSAD2

NM_080657.5:p.Y85C

Associated Papers

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Ilmarinen T et al.

Human Mutation, 2005

Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting.

Ramsey C et al.

Human Molecular Genetics, 2002

The genetic background of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy and its autoimmune disease components.

Vogel A et al.

Journal of Molecular Medicine (berlin, Germany), 2002

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."