ACE c.3053T>C ;(p.I1018T)

Variant ID: 17-61570937-T-C

NM_000789.3(ACE):c.3053T>C;(p.I1018T)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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

Bmc Research Notes
Udosen, Brenda B; Soremekun, Opeyemi O; Ekenna, Chinwe C; Idowu Omotuyi, Olaposi O; Chikowore, Tinashe T; Nashiru, Oyekanmi O; Fatumo, Segun S
Publication Date: 2021-12-20

Variant appearance in text: ACE: I1018T; rs4976
PubMed Link: 34930451
Variant Present in the following documents:
  • Main text
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 2
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 11
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 4
  • 13104_2021_Article_5879.pdf
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 3
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



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

Bmc Research Notes
Udosen, Brenda B; Soremekun, Opeyemi O; Ekenna, Chinwe C; Idowu Omotuyi, Olaposi O; Chikowore, Tinashe T; Nashiru, Oyekanmi O; Fatumo, Segun S
Publication Date: 2021-12-20

Variant appearance in text: ACE: I1018T; rs4976
PubMed Link: 34930451
Variant Present in the following documents:
  • Main text
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 2
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 11
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 4
  • 13104_2021_Article_5879.pdf
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 3
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs4976
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: ACE: I1018T
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



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

Plos One
Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J
Publication Date: 2016

Variant appearance in text: ACE: I1018T; rs4976
PubMed Link: 27249223
Variant Present in the following documents:
  • pone.0150079.s002.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs4976
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: ACE: I1018T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs4976
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
View BVdb publication page



Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community.

American Journal Of Human Genetics
Meng, Yan Y; Baldwin, Clinton T CT; Bowirrat, Abdalla A; Waraska, Kristin K; Inzelberg, Rivka R; Friedland, Robert P RP; Farrer, Lindsay A LA
Publication Date: 2006-05

Variant appearance in text: rs4976
PubMed Link: 16642441
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNPs3D: candidate gene and SNP selection for association studies.

Bmc Bioinformatics
Yue, Peng P; Melamud, Eugene E; Moult, John J
Publication Date: 2006-03-22

Variant appearance in text: rs4976
PubMed Link: 16551372
Variant Present in the following documents:
  • Main text
  • 1471-2105-7-166.pdf
View BVdb publication page