Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.G384A
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STAT1

NM_007315.4:p.G384A

Associated Papers

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Soltész B et al.

Journal of Medical Genetics, 2013

Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

Takezaki S et al.

Journal of Immunology (baltimore, Md. : 1950), 2012

Dephosphorylation of phosphotyrosine on STAT1 dimers requires extensive spatial reorientation of the monomers facilitated by the N-terminal domain.

Mertens C et al.

Genes & Development, 2006

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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."