Varaico: Literature-Extracted Genetic Variants

Gene:TLR2
Variant:p.R579H
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TLR2

NM_001318789.2:p.R579H

Associated Papers

Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population.

Henmyr V et al.

Bmc Medical Genetics, 2017

28228119 (PubMed )
Supplement: 12881_2017_379_MOESM8_ESM.xlsx › TabS4

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Genetic variation in TLR genes in Ugandan and South African populations and comparison with HapMap data.

Baker AR et al.

Plos One, 2012

Toll-like receptor 2 (P631H) mutant impairs membrane internalization and is a dominant negative allele.

Etokebe GE et al.

Scandinavian Journal of Immunology, 2010

No involvement of non-synonymous TLR2 polymorphisms in Japanese leprosy patients.

Mikita N et al.

Journal of Dermatological Science, 2009

Rare TLR2 mutations reduce TLR2 receptor function and can increase atopy risk.

Kormann MS et al.

Allergy, 2009

Host genetic susceptibility to pneumococcal and meningococcal disease: a systematic review and meta-analysis.

Brouwer MC et al.

The Lancet. Infectious Diseases, 2009

Characterization and investigation of single nucleotide polymorphisms and a novel TLR2 mutation in the human TLR2 gene.

Merx S et al.

Human Molecular Genetics, 2007

Toll-like receptor 2 and Toll-like receptor 4 polymorphisms in invasive pneumococcal disease.

Moens L et al.

Microbes and Infection, 2007

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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."