Varaico: Literature-Extracted Genetic Variants

Gene:THBD
Variant:p.R403K
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THBD

NM_000361.3:p.R403K

Associated Papers

Thrombomodulin Arg403Lys mutation impairs protein C activation and increases thrombosis risk.

Lai Z et al.

Thrombosis Research, 2025

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.

Huerta A et al.

Kidney International, 2023

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c

Thrombotic microangiopathy associated with arboviral infection: Report of 3 cases.

Coelho Júnior JL et al.

Plos Neglected Tropical Diseases, 2021

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › NBL-S

Genetic analysis of the complement pathway in C3 glomerulopathy.

Zhao W et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018

Genomic analysis identifies masqueraders of full-term cerebral palsy.

Takezawa Y et al.

Annals of Clinical and Translational Neurology, 2018

29761117 (PubMed )
Supplement: ACN3-5-538-s001.xlsx › Sheet1

Overactivation of Complement Alternative Pathway in Postpartum Atypical Hemolytic Uremic Syndrome Patients with Renal Involvement.

Song D et al.

American Journal of Reproductive Immunology (new York, N.y. : 1989), 2015

Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation.

Matsumoto T et al.

International Journal of Hematology, 2014

Haplotype of thrombomodulin gene associated with plasma thrombomodulin level and deep vein thrombosis in the Japanese population.

Sugiyama S et al.

Thrombosis Research, 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."