Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG1
Variant:p.T89S
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PRKAG1

NM_002733.5:p.T89S

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Evidence of a genetic background predisposing to complex regional pain syndrome type 1.

Shaikh SS et al.

Journal of Medical Genetics, 2024

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

van Duijvenboden S et al.

American Journal of Human Genetics, 2023

A combinatorial oligogenic basis for the phenotypic plasticity between late-onset dilated and arrhythmogenic cardiomyopathy in a single family.

Pourebrahim K et al.

The Journal of Cardiovascular Aging, 2021

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Turcot V et al.

Nature Genetics, 2018

29273807 (PubMed )
Supplement: NIHMS920811-supplement-2.xlsx › S25._VEP_annot_rareLF

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Surendran P et al.

Nature Genetics, 2016

27618447 (PubMed )
Supplement: NIHMS69533-supplement-Supplementary_Tables.xlsx › Supplementary_Table_05

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.

Oliveira SM et al.

Journal of Molecular and Cellular Cardiology, 2003

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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."