Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.F494L
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TLR8

NM_138636.5:p.F494L

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

Erythroid-intrinsic activation of TLR8 impairs erythropoiesis in inherited anemia.

Liang J et al.

Nature Communications, 2024

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

Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.

Aluri J et al.

Cells, 2021

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.

Aluri J et al.

Blood, 2021

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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."