Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.V54L
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VKORC1

NM_024006.6:p.V54L

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

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

Stabilization of warfarin-binding pocket of VKORC1 and VKORL1 by a peripheral region determines their different sensitivity to warfarin inhibition.

Shen G et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Pharmacogenetics in Jewish populations.

Yang Y et al.

Drug Metabolism and Drug Interactions, 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

Pharmacodynamic resistance to warfarin is associated with nucleotide substitutions in VKORC1.

Harrington DJ et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

Multiple genetic alterations in vitamin K epoxide reductase complex subunit 1 gene (VKORC1) can explain the high dose requirement during oral anticoagulation in humans.

Bodin L et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

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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."