KCNH2 c.1681G>C ;(p.A561P)

Variant ID: 7-150648800-C-G

NM_000238.3(KCNH2):c.1681G>C;(p.A561P)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1681G>C; Ala561Pro
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: LQT2: A561P
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience
Shi, Tianyuan T; Cheung, Martin M
Publication Date: 2021-05-13

Variant appearance in text: HERG: A561P
PubMed Link: 33985584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology
Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2020

Variant appearance in text: LQT2: A561P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Urine-Derived Induced Pluripotent Stem Cells in Cardiovascular Disease.

Cardiology Research And Practice
Huang, Ping P; Li, Yibin Y; Nasser, M I MI; Guo, Huiming H; Huang, Huanlei H; Zhao, Mingyi M; Zhu, Ping P
Publication Date: 2020

Variant appearance in text: HERG: A561P
PubMed Link: 32377426
Variant Present in the following documents:
  • Main text
  • CRP2020-3563519.pdf
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Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure.

Journal Of Clinical Medicine
Hirono, Keiichi K; Hata, Yukiko Y; Miyao, Nariaki N; Okabe, Mako M; Takarada, Shinya S; Nakaoka, Hideyuki H; Ibuki, Keijiro K; Ozawa, Sayaka S; Yoshimura, Naoki N; Nishida, Naoki N; Ichida, Fukiko F; Lvnc Study Collaborators,
Publication Date: 2020-03-13

Variant appearance in text: rs199472921
PubMed Link: 32183154
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

International Journal Of Molecular Sciences
Pourrier, Marc M; Fedida, David D
Publication Date: 2020-01-19

Variant appearance in text: KCNH2: A561P
PubMed Link: 31963859
Variant Present in the following documents:
  • Main text
  • ijms-21-00657.pdf
View BVdb publication page



R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Scientific Reports
Mesquita, Fernanda C P FCP; Arantes, Paulo C PC; Kasai-Brunswick, Tais H TH; Araujo, Dayana S DS; Gubert, Fernanda F; Monnerat, Gustavo G; Silva Dos Santos, Danúbia D; Neiman, Gabriel G; Leitão, Isabela C IC; Barbosa, Raiana A Q RAQ; Coutinho, Jorge L JL; Vaz, Isadora M IM; Dos Santos, Marcus N MN; Borgonovo, Tamara T; Cruz, Fernando E S FES; Miriuka, Santiago S; Medei, Emiliano H EH; Campos de Carvalho, Antonio C AC; Carvalho, Adriana B AB
Publication Date: 2019-12-16

Variant appearance in text: KCNH2: A561P
PubMed Link: 31844156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.

Cell Transplantation
Wang, Aline Yen Ling AYL; Loh, Charles Yuen Yung CYY
Publication Date: 2019-12

Variant appearance in text: HERG: A561P
PubMed Link: 31722555
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)
van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2020-02

Variant appearance in text: LQT2: A561P
PubMed Link: 31664757
Variant Present in the following documents:
  • STEM-38-174-s001.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 1681G>C; A561P
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genome Editing and Induced Pluripotent Stem Cell Technologies for Personalized Study of Cardiovascular Diseases.

Current Cardiology Reports
Chun, Young Wook YW; Durbin, Matthew D MD; Hong, Charles C CC
Publication Date: 2018-04-17

Variant appearance in text: KCNH2: A561P
PubMed Link: 29666931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International
Ji, Xiaoli X; Wang, Min M; Chen, Fang F; Zhou, Junmei J
Publication Date: 2017

Variant appearance in text: HERG: A561P
PubMed Link: 29250119
Variant Present in the following documents:
  • Main text
  • SCI2017-4378947.pdf
View BVdb publication page



Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls
Giacomelli, E E; Mummery, C L CL; Bellin, M M
Publication Date: 2017-10

Variant appearance in text: KCNH2: A561P
PubMed Link: 28573431
Variant Present in the following documents:
  • Main text
  • 18_2017_Article_2546.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KCNH2: 1681G>C; Ala561Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: KCNH2: 1681G>C; A561P
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01

Variant appearance in text: LQT2: A561P
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.

Plos One
Samol, Alexander A; Gönes, Mehmet M; Zumhagen, Sven S; Bruns, Hans-Jürgen HJ; Paul, Matthias M; Vahlhaus, Christian C; Waltenberger, Johannes J; Schulze-Bahr, Eric E; Eckardt, Lars L; Mönnig, Gerold G
Publication Date: 2016

Variant appearance in text: LQT2: A561P
PubMed Link: 27379800
Variant Present in the following documents:
  • Main text
  • pone.0158085.pdf
View BVdb publication page



Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews
Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC
Publication Date: 2016-07

Variant appearance in text: LQT2: A561P
PubMed Link: 27335446
Variant Present in the following documents:
  • Main text
View BVdb publication page



Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology
Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC
Publication Date: 2016-06

Variant appearance in text: KCNH2: A561P
PubMed Link: 27009425
Variant Present in the following documents:
  • Main text
View BVdb publication page



In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.

Journal Of Molecular And Cellular Cardiology
Romero, Lucia L; Trenor, Beatriz B; Yang, Pei-Chi PC; Saiz, Javier J; Clancy, Colleen E CE
Publication Date: 2015-10

Variant appearance in text: LQT2: A561P
PubMed Link: 26859003
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.

Journal Of The American Heart Association
Jouni, Mariam M; Si-Tayeb, Karim K; Es-Salah-Lamoureux, Zeineb Z; Latypova, Xenia X; Champon, Benoite B; Caillaud, Amandine A; Rungoat, Anais A; Charpentier, Flavien F; Loussouarn, Gildas G; Baró, Isabelle I; Zibara, Kazem K; Lemarchand, Patricia P; Gaborit, Nathalie N
Publication Date: 2015-09-01

Variant appearance in text: KCNH2: A561P
PubMed Link: 26330336
Variant Present in the following documents:
  • Main text
  • jah30004-e002159-sd1.pdf
  • jah30004-e002159.pdf
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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: Kv11.1: A561P
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page



In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.

Journal Of Molecular And Cellular Cardiology
Romero, Lucia L; Trenor, Beatriz B; Yang, Pei-Chi PC; Saiz, Javier J; Clancy, Colleen E CE
Publication Date: 2014-07

Variant appearance in text: HERG: A561P
PubMed Link: 24631769
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

British Journal Of Pharmacology
Männikkö, Roope R; Overend, G G; Perrey, C C; Gavaghan, C L CL; Valentin, J-P JP; Morten, J J; Armstrong, M M; Pollard, C E CE
Publication Date: 2010-01

Variant appearance in text: KCNH2: A561P
PubMed Link: 19673885
Variant Present in the following documents:
  • Main text
View BVdb publication page