Varaico: Literature-Extracted Genetic Variants

Gene:TLR8
Variant:p.D543A
Back to variants list

TLR8

NM_138636.5:p.D543A

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

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

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

Aluri J et al.

Blood, 2021

RNA and imidazoquinolines are sensed by distinct TLR7/8 ectodomain sites resulting in functionally disparate signaling events.

Colak E et al.

Journal of Immunology (baltimore, Md. : 1950), 2014

Comparative sequence analysis of leucine-rich repeats (LRRs) within vertebrate toll-like receptors.

Matsushima N et al.

Bmc Genomics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."