Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S116P
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SERPINC1

NM_000488.4:p.S116P

Associated Papers

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

Luxembourg B et al.

Thrombosis Research, 2015

Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Kim HJ et al.

Haematologica, 2014

[Functional study of abnormal fibrinogen caused by Arg275His mutation in fibrinogen γ chain].

Zhou JY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2013

Clinical multicenter evaluation of a new FXa-based Antithrombin assay.

Merz M et al.

International Journal of Laboratory Hematology, 2011

Molecular basis of antithrombin deficiency in four Japanese patients with antithrombin gene abnormalities including two novel mutations.

Kyotani M et al.

American Journal of Hematology, 2007

Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis.

Corral J et al.

Circulation, 2004

Antithrombin III phenylalanines 122 and 121 contribute to its high affinity for heparin and its conformational activation.

Jairajpuri MA et al.

The Journal of Biological Chemistry, 2003

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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."