Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.E705A
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STAT1

NM_007315.4:p.E705A

Associated Papers

Severe Impairment of IFN-α and IFN-γ Responses in Cells of a Patient with a Rare STAT1 Tail Segment Domain Mutation.

Xiao J et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2025

Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function.

Sampaio EP et al.

The Journal of Allergy and Clinical Immunology, 2018

Structure-function analysis indicates that sumoylation modulates DNA-binding activity of STAT1.

Grönholm J et al.

Bmc Biochemistry, 2012

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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."