ACE c.1775A>T ;(p.D592V)

Variant ID: 17-61561756-A-T

NM_000789.3(ACE):c.1775A>T;(p.D592V)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Association between Interactions among ACE Gene Polymorphisms and Essential Hypertension in Patients in the Hefei Region, Anhui, China.

Journal Of The Renin-Angiotensin-Aldosterone System : Jraas
Wang, Li L; Song, Ting-Ting TT; Dong, Chang-Wu CW
Publication Date: 2023

Variant appearance in text: rs12709426
PubMed Link: 37091860
Variant Present in the following documents:
  • JRAAS2023-1159973.pdf
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: ACE: D592V; rs12709426
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: rs12709426
PubMed Link: 34930451
Variant Present in the following documents:
  • 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: rs12709426
PubMed Link: 34930451
Variant Present in the following documents:
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 6
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: rs12709426
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association of factor V gene polymorphism with arteriovenous graft failure.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Allon, Michael M; Zhang, Li L; Maya, Ivan D ID; Bray, Molly S MS; Fernandez, Jose R JR; ,
Publication Date: 2012-05

Variant appearance in text: rs12709426
PubMed Link: 22281051
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predictive genomics of cardioembolic stroke.

Stroke
Ramoni, Rachel Badovinac RB; Himes, Blanca E BE; Sale, Michele M MM; Furie, Karen L KL; Ramoni, Marco F MF
Publication Date: 2009-03

Variant appearance in text: rs12709426
PubMed Link: 19064790
Variant Present in the following documents:
  • Main text
View BVdb publication page