Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.L27V
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VKORC1

NM_024006.6:p.L27V

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

Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.

Caspar SM et al.

International Journal of Molecular Sciences, 2020

32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF

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

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

Czogalla KJ et al.

Blood, 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

A new VKORC1 mutation leading to an isolated resistance to fluindione.

Peoc'h K et al.

British Journal of Haematology, 2009

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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."