Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Y244C
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ACE

NM_000789.4:p.Y244C

Associated Papers

Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.

Twesigomwe D et al.

Scientific Reports, 2025

ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of Rare ACE Variants.

Mironenko IV et al.

International Journal of Molecular Sciences, 2025

41009662 (PubMed )
Supplement: ijms-26-09099-s001.zip › ijms-3824164-supplementary.pdf

Structural effect of the H992D/H418D mutation of angiotensin-converting enzyme in the Indian population: implications for health and disease.

Kulshreshtha A et al.

Journal of Biomolecular Structure & Dynamics, 2025

Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype.

Kryukova OV et al.

Biomedicines, 2024

39457722 (PubMed )
Supplement: biomedicines-12-02410-s001.zip › biomedicines-3224268-supplementary.pdf

Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.

Kalideen K et al.

Journal of Personalized Medicine, 2024

38541065 (PubMed )
Supplement: jpm-14-00323-s001.zip › jpm-2900250-supplementary.pdf

Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease.

Danilov SM et al.

Biomedicines, 2024

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.

Cochran JN et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

The effect of ACE2 receptor, IFN-γ, and TNF-α polymorphisms on the severity and prognosis of the disease in SARS-CoV-2 infection.

Esen SG et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2023

In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure.

Udosen B et al.

Bmc Research Notes, 2021

34930451 (PubMed )
Supplement: 13104_2021_5879_MOESM1_ESM.xlsx › _S.Table_2b

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

The Genetics of Hereditary Angioedema: A Review.

Santacroce R et al.

Journal of Clinical Medicine, 2021

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.

Schwartzentruber J et al.

Nature Genetics, 2021

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

32345996 (PubMed )
Supplement: 41598_2020_63183_MOESM5_ESM.xlsx › S1

An update on the genetics and pathogenesis of hereditary angioedema.

Banday AZ et al.

Genes & Diseases, 2020

Genetic Variation of Kallikrein-Kinin System and Related Genes in Patients With Hereditary Angioedema.

Veronez CL et al.

Frontiers in Medicine, 2019

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Sassi C et al.

Plos One, 2016

27249223 (PubMed )
Supplement: pone.0150079.s002.xlsx › Tabelle1

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC4_ERR166308

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Structural and energetic analyses of SNPs in drug targets and implications for drug therapy.

Sun HY et al.

Journal of Chemical Information and Modeling, 2013

24304102 (PubMed )
Supplement: ci400457v_si_001.xls › Sheet1

Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.

Lalli MA et al.

Human Mutation, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
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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."