Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.A267T
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STAT1

NM_007315.4:p.A267T

Associated Papers

Human STAT1 gain of function with chronic mucocutaneous candidiasis: A comprehensive review for strengthening the connection between bedside observations and laboratory research.

Asano T et al.

Immunological Reviews, 2024

Base editing screens map mutations affecting interferon-γ signaling in cancer.

Coelho MA et al.

Cancer Cell, 2023

36669486 (PubMed )
Supplement: mmc4.xlsx › BE_variants_-clinical_relevance

DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.

Scott O et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

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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."