Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S2183A
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APC

NM_000038.6:p.S2183A

Associated Papers

Improved coagulation and haemostasis in haemophilia with inhibitors by combinations of superFactor Va and Factor VIIa.

Bhat V et al.

Thrombosis and Haemostasis, 2016

Improved hemostasis in hemophilia mice by means of an engineered factor Va mutant.

von Drygalski A et al.

Journal of Thrombosis and Haemostasis : Jth, 2014

An engineered factor Va prevents bleeding induced by anticoagulant wt activated protein C.

von Drygalski A et al.

Plos One, 2014

Factor V is an anticoagulant cofactor for activated protein C during inactivation of factor Va.

Cramer TJ et al.

Pathophysiology of Haemostasis and Thrombosis, 2010

Factor Va residues 311-325 represent an activated protein C binding region.

Yegneswaran S et al.

The Journal of Biological Chemistry, 2007

Partial glycosylation of Asn2181 in human factor V as a cause of molecular and functional heterogeneity. Modulation of glycosylation efficiency by mutagenesis of the consensus sequence for N-linked glycosylation.

Nicolaes GA et al.

Biochemistry, 1999

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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."