Varaico: Literature-Extracted Genetic Variants

Gene:VKORC1
Variant:p.H28Q
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VKORC1

NM_024006.6:p.H28Q

Associated Papers

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

Chiasson MA et al.

Elife, 2020

32870157 (PubMed )
Supplement: elife-58026-supp3.docx

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

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

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

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