Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.G572V
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TLR8

NM_138636.5:p.G572V

Associated Papers

Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.

Skenteris NT et al.

Jci Insight, 2026

Toll-like receptor 8 deficiency syndrome result in diffuse pigmented skin rash and autoinflammatory syndrome.

Liu JW et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2025

Toll-like receptor 8 activation induces a neutrophil inflammatory phenotype: therapeutic implications for the utility of toll-like receptor 8 inhibition.

Schmidt A et al.

Journal of Leukocyte Biology, 2025

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.

Fejtkova M et al.

American Journal of Hematology, 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."