Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.Y139H
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VKORC1

NM_024006.6:p.Y139H

Associated Papers

Missense VKOR mutants exhibit severe warfarin resistance but lack VKCFD via shifting to an aberrantly reduced state.

Li S et al.

Blood Advances, 2023

Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact.

Chiasson MA et al.

Elife, 2020

Warfarin alters vitamin K metabolism: a surprising mechanism of VKORC1 uncoupling necessitates an additional reductase.

Rishavy MA et al.

Blood, 2018

Warfarin resistance associated with genetic polymorphism of VKORC1: linking clinical response to molecular mechanism using computational modeling.

Lewis BC et al.

Pharmacogenetics and Genomics, 2016

Structural Modeling Insights into Human VKORC1 Phenotypes.

Czogalla KJ et al.

Nutrients, 2015

Identification of VKORC1 genotype leading to resistance to tecarfarin.

Matagrin B et al.

Journal of Clinical Pharmacology, 2014

Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.

Müller E et al.

Bmc Genetics, 2014

Human VKORC1 mutations cause variable degrees of 4-hydroxycoumarin resistance and affect putative warfarin binding interfaces.

Czogalla KJ et al.

Blood, 2013

Determination of the warfarin inhibition constant Ki for vitamin K 2,3-epoxide reductase complex subunit-1 (VKORC1) using an in vitro DTT-driven assay.

Bevans CG et al.

Biochimica Et Biophysica Acta, 2013

VKORC1 mutations detected in patients resistant to vitamin K antagonists are not all associated with a resistant VKOR activity.

Hodroge A et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

Watzka M et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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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."