Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.R219C
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ACE2

NM_001371415.1:p.R219C

Associated Papers

Comparative analysis of ACE2 mutations and their impact on SARS-CoV-2 susceptibility within diverse ethnic groups.

Shafique R et al.

Journal of Biomolecular Structure & Dynamics, 2026

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Human variation in the protein receptor ACE2 affects its binding affinity to SARS-CoV-2 in a variant-dependent manner.

Santos TM et al.

Journal of Biomolecular Structure & Dynamics, 2023

Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19.

Talebi T et al.

Genetics Research, 2023

Computational modeling of the effect of five mutations on the structure of the ACE2 receptor and their correlation with infectivity and virulence of some emerged variants of SARS-CoV-2 suggests mechanisms of binding affinity dysregulation.

Rodriguez JA et al.

Chemico-biological Interactions, 2022

36336003 (PubMed )
Supplement: mmc1.pdf

Analysis of the docking property of host variants of hACE2 for SARS-CoV-2 in a large cohort.

Paik H et al.

Plos Computational Biology, 2022

Missense variants in human ACE2 strongly affect binding to SARS-CoV-2 Spike providing a mechanism for ACE2 mediated genetic risk in Covid-19: A case study in affinity predictions of interface variants.

MacGowan SA et al.

Plos Computational Biology, 2022

35235558 (PubMed )
Supplement: pcbi.1009922.s001.xlsx › Sheet1

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.

Vadgama N et al.

Frontiers in Genetics, 2022

Human ACE2 receptor polymorphisms and altered susceptibility to SARS-CoV-2.

Suryamohan K et al.

Communications Biology, 2021

33846513 (PubMed )
Supplement: 42003_2021_2030_MOESM1_ESM.pdf

Genetic variability in COVID-19-related genes in the Brazilian population.

Secolin R et al.

Human Genome Variation, 2021

In Silico Analysis of High-Risk Missense Variants in Human ACE2 Gene and Susceptibility to SARS-CoV-2 Infection.

Saih A et al.

Biomed Research International, 2021

The Impact of ACE2 Polymorphisms on COVID-19 Disease: Susceptibility, Severity, and Therapy.

Chen F et al.

Frontiers in Cellular and Infection Microbiology, 2021

ACE2 coding variants in different populations and their potential impact on SARS-CoV-2 binding affinity.

Ali F et al.

Biochemistry and Biophysics Reports, 2020

Structural models of human ACE2 variants with SARS-CoV-2 Spike protein for structure-based drug design.

Sorokina M et al.

Scientific Data, 2020

Investigation of the genetic variation in ACE2 on the structural recognition by the novel coronavirus (SARS-CoV-2).

Guo X et al.

Journal of Translational Medicine, 2020

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known

ACE2 and TMPRSS2 Potential Involvement in Genetic Susceptibility to SARS-COV-2 in Cancer Patients.

Ravaioli S et al.

Cell Transplantation, 0

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