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TLR4 c.2081A>G ;(p.K694R)
Variant ID: 9-120476487-A-G
NM_138554.4(
TLR4
):c.2081A>G;(p.K694R)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Lys694Arg polymorphism leads to blunted responses to LPS by interfering TLR4 with recruitment of MyD88.
Innate Immunity
Yang, Yajie Y; Hu, Yan Y; Zhou, Yile Y; Liang, Tao T; Tang, Haihong H; Ju, Huihui H; Shi, Qiqing Q; Fang, Hao H
Publication Date: 2021-08
Variant appearance in text: TLR4: Lys694Arg
PubMed Link:
32513051
Variant Present in the following documents:
Main text
sj-pdf-1-ini-10.1177_1753425920927479.pdf
10.1177_1753425920927479.pdf
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs5030722
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious diseases.
Clinical And Experimental Immunology
Skevaki, C C; Pararas, M M; Kostelidou, K K; Tsakris, A A; Routsias, J G JG
Publication Date: 2015-05
Variant appearance in text: TLR-4: Lys694Arg; rs5030722
PubMed Link:
25560985
Variant Present in the following documents:
Main text
View BVdb publication page
Toll-like receptor 4 polymorphisms are associated with resistance to Legionnaires' disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hawn, Thomas R TR; Verbon, Annelies A; Janer, Marta M; Zhao, Lue Ping LP; Beutler, Bruce B; Aderem, Alan A
Publication Date: 2005-02-15
Variant appearance in text: TLR4: K694R; rs5030722
PubMed Link:
15699327
Variant Present in the following documents:
Main text
View BVdb publication page
Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Smirnova, Irina I; Mann, Navjiwan N; Dols, Annemiek A; Derkx, H H HH; Hibberd, Martin L ML; Levin, Michael M; Beutler, Bruce B
Publication Date: 2003-05-13
Variant appearance in text: TLR4: K694R
PubMed Link:
12730365
Variant Present in the following documents:
Main text
View BVdb publication page