Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N187D
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SERPINC1

NM_000488.4:p.N187D

Associated Papers

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.

Wang HL et al.

Thrombosis Journal, 2023

Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.

Luxembourg B et al.

Thrombosis Research, 2015

Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2013

[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].

Deng HY et al.

Zhonghua Yi Xue Za Zhi, 2013

Conformational Asn187Asp/Lys antithrombin variants and thrombosis. Clinical and biological features in 13 new heterozygotes.

Picard V et al.

Thrombosis and Haemostasis, 2005

Introduction of a mutation in the shutter region of antithrombin (Phe77 --> Leu) increases affinity for heparin and decreases thermal stability.

Quinsey NS et al.

Biochemistry, 2003

Two novel antithrombin variants, Asn187Asp and Asn187Lys, indicate a functional role for asparagine 187.

Perry DJ et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 1995

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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."