Varaico: Literature-Extracted Genetic Variants

Gene:KCNMB1
Variant:p.E65K
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KCNMB1

NM_004137.4:p.E65K

Associated Papers

IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.

Malvestiti F et al.

International Journal of Molecular Sciences, 2026

41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Miller JP et al.

Channels (austin, Tex.), 2021

Pharmacogenomics of Hypertension Treatment.

Rysz J et al.

International Journal of Molecular Sciences, 2020

Statistical analysis of disease-causing and neutral mutations in human membrane proteins.

Kulandaisamy A et al.

Proteins, 2019

Pharmacogenomic studies of hypertension: paving the way for personalized antihypertensive treatment.

Eadon MT et al.

Expert Review of Precision Medicine and Drug Development, 2018

Association between potassium channel SNPs and essential hypertension in Xinjiang Kazak Chinese patients.

Han YY et al.

Experimental and Therapeutic Medicine, 2017

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

Zaragoza MV et al.

Plos One, 2016

An update on the pharmacogenetics of treating hypertension.

Fontana V et al.

Journal of Human Hypertension, 2015

Genome-wide association study of kidney function decline in individuals of European descent.

Gorski M et al.

Kidney International, 2015

BK channel activation by tungstate requires the β1 subunit extracellular loop residues essential to modulate voltage sensor function and channel gating.

Fernández-Mariño AI et al.

Pflugers Archiv : European Journal of Physiology, 2014

Single-nucleotide polymorphisms in vascular Ca2+-activated K+-channel genes and cardiovascular disease.

Köhler R

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

Common charge-shift mutation Glu65Lys in K+ channel β₁-Subunit KCNMB1: pleiotropic consequences for glomerular filtration rate and progressive renal disease.

Chen Y et al.

American Journal of Nephrology, 2010

Has pharmacogenetics brought us closer to 'personalized medicine' for initial drug treatment of hypertension?

Arnett DK et al.

Current Opinion in Cardiology, 2009

Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension.

Yoshida T et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2009

Association of genetic variants with chronic kidney disease in Japanese individuals with type 2 diabetes mellitus.

Yoshida T et al.

International Journal of Molecular Medicine, 2009

The KCNMB1 E65K variant is associated with reduced central pulse pressure in the community-based Framingham Offspring Cohort.

Kelley-Hedgepeth A et al.

Journal of Hypertension, 2009

The KCNMB1 Glu65Lys polymorphism associates with reduced systolic and diastolic blood pressure in the Inter99 study of 5729 Danes.

Nielsen T et al.

Journal of Hypertension, 2008

Genetic variation in the KCNMA1 potassium channel alpha subunit as risk factor for severe essential hypertension and myocardial infarction.

Tomás M et al.

Journal of Hypertension, 2008

An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.

Seibold MA et al.

Human Molecular Genetics, 2008

Genetic factors for ischemic and hemorrhagic stroke in Japanese individuals.

Yamada Y et al.

Stroke, 2008

Interactions among genetic variants from contractile pathway of vascular smooth muscle cell in essential hypertension susceptibility of Chinese Han population.

Zhao Q et al.

Pharmacogenetics and Genomics, 2008

Association of a polymorphism of CYP3A4 with type 2 diabetes mellitus.

Yamada Y et al.

International Journal of Molecular Medicine, 2007

KCNMB1 genotype influences response to verapamil SR and adverse outcomes in the INternational VErapamil SR/Trandolapril STudy (INVEST).

Beitelshees AL et al.

Pharmacogenetics and Genomics, 2007

Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit.

Gong Y et al.

Pharmacogenetics and Genomics, 2007

Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

Kan T et al.

Bioinformatics and Biology Insights, 2007

Protective effect of the KCNMB1 E65K genetic polymorphism against diastolic hypertension in aging women and its relevance to cardiovascular risk.

Sentí M et al.

Circulation Research, 2005

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Association analysis between hypertension and CYBA, CLCNKB, and KCNMB1 functional polymorphisms in the Japanese population--the Suita Study.

Kokubo Y et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2005

Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension.

Fernández-Fernández JM et al.

The Journal of Clinical Investigation, 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."