Varaico: Literature-Extracted Genetic Variants

Gene:TIRAP
Variant:p.D96N
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TIRAP

NM_001318777.2:p.D96N

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations

o-Vanillin binds covalently to MAL/TIRAP Lys-210 but independently inhibits TLR2.

Rahaman MH et al.

Journal of Enzyme Inhibition and Medicinal Chemistry, 2024

Genetic characteristics of common variable immunodeficiency patients with autoimmunity.

Liu Z et al.

Frontiers in Genetics, 2023

Potential associations between variants of genes encoding regulators of inflammation, and mediators of inflammation in type 2 diabetes and insulin resistance.

Ozbayer C et al.

Journal of Clinical Pharmacy and Therapeutics, 2021

Common variants of genes encoding TLR4 and TLR4 pathway members TIRAP and IRAK1 are effective on MCP1, IL6, IL1β, and TNFα levels in type 2 diabetes and insulin resistance.

Degirmenci I et al.

Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2019

The Single Nucleotide Polymorphism Mal-D96N Mice Provide New Insights into Functionality of Mal in TLR Immune Responses.

Dowling JK et al.

Journal of Immunology (baltimore, Md. : 1950), 2019

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle

Structure of the Toll/Interleukin-1 Receptor (TIR) Domain of the B-cell Adaptor That Links Phosphoinositide Metabolism with the Negative Regulation of the Toll-like Receptor (TLR) Signalosome.

Halabi S et al.

The Journal of Biological Chemistry, 2017

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7

A Common Variant in the Adaptor Mal Regulates Interferon Gamma Signaling.

Ní Cheallaigh C et al.

Immunity, 2016

Association of TLR1, TLR2, TLR4, TLR6, and TIRAP polymorphisms with disease susceptibility.

Noreen M et al.

Immunologic Research, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A0FW-01A.domain

TIRAP C539T polymorphism contributes to tuberculosis susceptibility: evidence from a meta-analysis.

Liu Q et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2014

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 692.274

Genetic polymorphisms in the Toll-like receptor signalling pathway in Helicobacter pylori infection and related gastric cancer.

Castaño-Rodríguez N et al.

Human Immunology, 2014

TIRAP rs8177374 gene polymorphism increased the risk of pulmonary tuberculosis in Zahedan, southeast Iran.

Naderi M et al.

Asian Pacific Journal of Tropical Medicine, 2014

PAR-1 polymorphisms and risk of Helicobacter pylori-related gastric cancer in a Chinese population.

Castaño-Rodríguez N et al.

Anticancer Research, 2012

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

Baker AR et al.

Plos One, 2012

FcεRI-induced mast cell cytokine production critically involves an aspartic acid residue (D234) in the C-terminal intracellular domain of the FcεRIβ chain.

Terada T et al.

Biochemical and Biophysical Research Communications, 2011

Association of TIRAP (MAL) gene polymorhisms with susceptibility to tuberculosis in a Chinese population.

Zhang YX et al.

Genetics and Molecular Research : Gmr, 2011

MyD88 adaptor-like D96N is a naturally occurring loss-of-function variant of TIRAP.

George J et al.

Journal of Immunology (baltimore, Md. : 1950), 2010

A TIR domain variant of MyD88 adapter-like (Mal)/TIRAP results in loss of MyD88 binding and reduced TLR2/TLR4 signaling.

Nagpal K et al.

The Journal of Biological Chemistry, 2009

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