BCHE c.1253G>C ;(p.G418A)

Variant ID: 3-165547569-C-G

NM_000055.2(BCHE):c.1253G>C;(p.G418A)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Pharmacogenomic profile of a central European urban random population-Czech population.

Plos One
Proietti, Riccardo R; Maranho Neto, Geraldo A GA; Kunzova, Sarka S; Lo Re, Oriana O; Ahola-Olli, Ari A; Heliste, Juho J; Gonzalez-Rivas, Juan Pablo JP; Vinciguerra, Manlio M
Publication Date: 2023

Variant appearance in text: rs28933390
PubMed Link: 37079615
Variant Present in the following documents:
  • Main text
  • pone.0284386.pdf
View BVdb publication page



Genetic Testing for BCHE Variants Identifies Patients at Risk of Prolonged Neuromuscular Blockade in Response to Succinylcholine.

Pharmacogenomics And Personalized Medicine
Zhu, Guang-Dan GD; Dawson, Eric E; Huskey, Angela A; Gordon, Ronald J RJ; Del Tredici, Andria L AL
Publication Date: 2020

Variant appearance in text: rs28933390
PubMed Link: 33061533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomic considerations for medications in the perioperative setting.

Pharmacogenomics
Jhun, Ellie H EH; Apfelbaum, Jeffrey L JL; Dickerson, David M DM; Shahul, Sajid S; Knoebel, Randall R; Danahey, Keith K; Ratain, Mark J MJ; O'Donnell, Peter H PH
Publication Date: 2019-07

Variant appearance in text: rs28933390
PubMed Link: 31411557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.

Scientific Reports
Nutile, T T; Ruggiero, D D; Herzig, A F AF; Tirozzi, A A; Nappo, S S; Sorice, R R; Marangio, F F; Bellenguez, C C; Leutenegger, A L AL; Ciullo, M M
Publication Date: 2019-03-11

Variant appearance in text: rs28933390
PubMed Link: 30858532
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_41022.pdf
View BVdb publication page



Genetic polymorphism analysis of patients with primary hyperhidrosis.

Clinical, Cosmetic And Investigational Dermatology
Simes, Bryce C BC; Moore, Joshua P JP; Brown, Terry C TC; Rushforth, Tyler J TJ; Bookout, Angela L AL; Richardson, Chante L CL
Publication Date: 2018

Variant appearance in text: rs28933390
PubMed Link: 30349345
Variant Present in the following documents:
  • Main text
  • ccid-11-477.pdf
View BVdb publication page



Projected impact of a multigene pharmacogenetic test to optimize medication prescribing in cardiovascular patients.

Pharmacogenomics
Dong, Olivia M OM; Li, Amy A; Suzuki, Oscar O; Oni-Orisan, Akinyemi A; Gonzalez, Ricardo R; Stouffer, George A GA; Lee, Craig R CR; Wiltshire, Tim T
Publication Date: 2018-06-01

Variant appearance in text: rs28933390
PubMed Link: 29793377
Variant Present in the following documents:
  • Main text
  • pgs-19-771.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: rs28933390
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Pharmacogenetic testing through the direct-to-consumer genetic testing company 23andMe.

Bmc Medical Genomics
Lu, Mengfei M; Lewis, Cathryn M CM; Traylor, Matthew M
Publication Date: 2017-06-19

Variant appearance in text: rs28933390
PubMed Link: 28629370
Variant Present in the following documents:
  • Main text
  • 12920_2017_Article_283.pdf
View BVdb publication page



Prescription medication changes following direct-to-consumer personal genomic testing: findings from the Impact of Personal Genomics (PGen) Study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Carere, Deanna Alexis DA; VanderWeele, Tyler J TJ; Vassy, Jason L JL; van der Wouden, Cathelijne H CH; Roberts, J Scott JS; Kraft, Peter P; Green, Robert C RC
Publication Date: 2017-05

Variant appearance in text: rs28933390
PubMed Link: 27657683
Variant Present in the following documents:
  • Main text
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: rs28933390
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs28933390
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 7
View BVdb publication page



Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs28933390
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chapter 7: Pharmacogenomics.

Plos Computational Biology
Karczewski, Konrad J KJ; Daneshjou, Roxana R; Altman, Russ B RB
Publication Date: 2012

Variant appearance in text: rs28933390
PubMed Link: 23300409
Variant Present in the following documents:
  • Main text
  • pcbi.1002817.pdf
View BVdb publication page