TLR6 c.581T>C ;(p.L194P)

Variant ID: 4-38830514-A-G

NM_006068.4(TLR6):c.581T>C;(p.L194P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine
Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Muelegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G
Publication Date: 2022-04

Variant appearance in text: TLR6: Leu194Pro; rs5743809
PubMed Link: 35133173
Variant Present in the following documents:
  • hcg-15-e003489-s001.pdf
View BVdb publication page



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

Bmc Medical Genetics
Henmyr, V V; Carlberg, D D; Manderstedt, E E; Lind-Halldén, C C; Säll, T T; Cardell, L O LO; Halldén, C C
Publication Date: 2017-02-23

Variant appearance in text: TLR6: L194P; rs5743809
PubMed Link: 28228119
Variant Present in the following documents:
  • 12881_2017_379_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility.

Plos One
Kim, Jihoon J; Shimizu, Chisato C; Kingsmore, Stephen F SF; Veeraraghavan, Narayanan N; Levy, Eric E; Ribeiro Dos Santos, Andre M AM; Yang, Hai H; Flatley, Jay J; Hoang, Long Truong LT; Hibberd, Martin L ML; Tremoulet, Adriana H AH; Harismendy, Olivier O; Ohno-Machado, Lucila L; Burns, Jane C JC
Publication Date: 2017

Variant appearance in text: TLR6: Leu194Pro; rs5743809
PubMed Link: 28151979
Variant Present in the following documents:
  • Main text
  • pone.0170977.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TLR6: L194P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



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

Plos One
Baker, Allison R AR; Qiu, Feiyou F; Randhawa, April Kaur AK; Horne, David J DJ; Adams, Mark D MD; Shey, Muki M; Barnholtz-Sloan, Jill J; Mayanja-Kizza, Harriet H; Kaplan, Gilla G; Hanekom, Willem A WA; Boom, W Henry WH; Hawn, Thomas R TR; Stein, Catherine M CM; ,
Publication Date: 2012

Variant appearance in text: TLR6: L194P; rs5743809
PubMed Link: 23112821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single nucleotide polymorphisms in toll-like receptor 6 are associated with altered lipopeptide- and mycobacteria-induced interleukin-6 secretion.

Genes And Immunity
Shey, M S MS; Randhawa, A K AK; Bowmaker, M M; Smith, E E; Scriba, T J TJ; de Kock, M M; Mahomed, H H; Hussey, G G; Hawn, T R TR; Hanekom, W A WA
Publication Date: 2010-10

Variant appearance in text: TLR6: L194P; rs5743809
PubMed Link: 20445564
Variant Present in the following documents:
  • Main text
View BVdb publication page