Varaico: Literature-Extracted Genetic Variants

Gene:ABCC9
Variant:p.A1513T
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ABCC9

NM_020297.4:p.A1513T

Associated Papers

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

Kubanek M et al.

Esc Heart Failure, 2024

39129193 (PubMed )
Supplement: EHF2-11-4127-s002.xlsx › non-ttn_up

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Orlic-Milacic M et al.

Database : the Journal of Biological Databases and Curation, 2024

38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx

Effect of donor GSTM3 rs7483 genetic variant on tacrolimus elimination in the early period after liver transplantation.

Zhang T et al.

Peerj, 2024

39465171 (PubMed )
Supplement: peerj-12-18360-s002.7z › drug-metabolizing_enzymes_and_transporter__DMET__microarray › markerlist.xlsx › markerlist.TXT

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.

Wang Z et al.

Frontiers in Pharmacology, 2022

Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.

Guo L et al.

Jama Cardiology, 2021

Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Kim B et al.

Translational and Clinical Pharmacology, 2021

34621706 (PubMed )
Supplement: tcp-29-135-s001.xls › tcp-29-135-s001

Genetic Discovery of ATP-Sensitive K+ Channels in Cardiovascular Diseases.

Huang Y et al.

Circulation. Arrhythmia and Electrophysiology, 2019

ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.

Tinker A et al.

Comprehensive Physiology, 2018

Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.

van Velzen HG et al.

Circulation. Genomic and Precision Medicine, 2018

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.

Gaunt TR et al.

Circulation. Cardiovascular Genetics, 2012

23139254 (PubMed )
Supplement: 962852_supplemental_material.pdf

Advances in cardiac ATP-sensitive K+ channelopathies from molecules to populations.

Terzic A et al.

Circulation. Arrhythmia and Electrophysiology, 2011

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

Human K(ATP) channelopathies: diseases of metabolic homeostasis.

Olson TM et al.

Pflugers Archiv : European Journal of Physiology, 2010

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Muscle KATP channels: recent insights to energy sensing and myoprotection.

Flagg TP et al.

Physiological Reviews, 2010

Quaternary structure of KATP channel SUR2A nucleotide binding domains resolved by synchrotron radiation X-ray scattering.

Park S et al.

Journal of Structural Biology, 2010

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

Bienengraeber M et al.

Nature Genetics, 2004

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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."