Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R445K
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SERPINC1

NM_000488.4:p.R445K

Associated Papers

Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect.

Bravo-Pérez C et al.

Jci Insight, 2022

Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.

Li L et al.

Thrombosis and Haemostasis, 2019

Prothrombotic SERPINC1 gene polymorphism may affect heparin sensitivity among different ethnicities of Chinese patients receiving heart surgery.

Wang J et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2015

Identification of a new SERPINC1 mutation in a Kazak family that alters the heparin binding capacity of antithrombin.

Zheng H et al.

Thrombosis Research, 2014

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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."