ACE c.3869G>A ;(p.R1290Q)

Variant ID: 17-61574675-G-A

NM_000789.3(ACE):c.3869G>A;(p.R1290Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: ACE: 3869G>A; Arg1290Lys
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.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: rs12720745
PubMed Link: 34930451
Variant Present in the following documents:
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 2
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 3
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 4
  • 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: rs12720745
PubMed Link: 34930451
Variant Present in the following documents:
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 2
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 4
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 3
  • 13104_2021_5879_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: ACE: R1290Q
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: ACE: R1290Q; rs12720745
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page