KCNH2 c.1714G>A ;(p.G572S)

Variant ID: 7-150648767-C-T

NM_000238.3(KCNH2):c.1714G>A;(p.G572S)

This variant was identified in 37 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: 1714G>A; Gly572Ser
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Human Molecular Genetics
Copier, Jaël S JS; Bootsma, Marianne M; Ng, Chai A CA; Wilde, Arthur A M AAM; Bertels, Robin A RA; Bikker, Hennie H; Christiaans, Imke I; van der Crabben, Saskia N SN; Hol, Janna A JA; Koopmann, Tamara T TT; Knijnenburg, Jeroen J; Lommerse, Aafke A J AAJ; van der Smagt, Jasper J JJ; Bezzina, Connie R CR; Vandenberg, Jamie I JI; Verkerk, Arie O AO; Barge-Schaapveld, Daniela Q C M DQCM; Lodder, Elisabeth M EM
Publication Date: 2022-10-21

Variant appearance in text: LQT2: G572S
PubMed Link: 36269083
Variant Present in the following documents:
  • ddac261.pdf
View BVdb publication page



Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.

Frontiers In Genetics
Zhuang, Jianlong J; Chen, Chunnuan C; Wang, Yuanbai Y; Zeng, Shuhong S; Chen, Yu'e Y; Jiang, Yuying Y; Xie, Yingjun Y; Wang, Gaoxiong G
Publication Date: 2022

Variant appearance in text: KCNH2: G572S
PubMed Link: 35865016
Variant Present in the following documents:
  • Main text
  • fgene-13-924573.pdf
View BVdb publication page



The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease.

Frontiers In Cardiovascular Medicine
Wang, Mengru M; Tu, Xin X
Publication Date: 2022

Variant appearance in text: KCNH2: G572S
PubMed Link: 35783865
Variant Present in the following documents:
  • fcvm-09-891399.pdf
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: 1714G>A
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics
, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ
Publication Date: 2021-12-01

Variant appearance in text: KCNH2: 1714G>A; Gly572Ser
PubMed Link: 34570182
Variant Present in the following documents:
  • jamapediatr-e213496-s003.xlsx, sheet 4
  • jamapediatr-e213496-s003.xlsx, sheet 1
View BVdb publication page



H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating.

International Journal Of Molecular Sciences
Farrugia, Audrey A; Rollet, Kevin K; Sinniger, Jérome J; Brun, Susana S; Spenle, Caroline C; Ludes, Bertrand B; Taleb, Omar O; Mensah-Nyagan, Ayikoe Guy AG
Publication Date: 2021-08-26

Variant appearance in text: KCNH2: G572S
PubMed Link: 34502138
Variant Present in the following documents:
  • ijms-22-09235.pdf
View BVdb publication page



Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.

Stem Cell Reports
Brandão, Karina O KO; van den Brink, Lettine L; Miller, Duncan C DC; Grandela, Catarina C; van Meer, Berend J BJ; Mol, Mervyn P H MPH; de Korte, Tessa T; Tertoolen, Leon G J LGJ; Mummery, Christine L CL; Sala, Luca L; Verkerk, Arie O AO; Davis, Richard P RP
Publication Date: 2020-11-10

Variant appearance in text: HERG: G572S
PubMed Link: 33176122
Variant Present in the following documents:
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Frontiers In Neurology
Bleakley, Lauren E LE; Soh, Ming S MS; Bagnall, Richard D RD; Sadleir, Lynette G LG; Gooley, Samuel S; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA
Publication Date: 2020

Variant appearance in text: KCNH2: G572S
PubMed Link: 33013630
Variant Present in the following documents:
  • fneur-11-00925.pdf
View BVdb publication page



Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01

Variant appearance in text: KCNH2: 1714G>A; Gly572Ser
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 10
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: G572S
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine
Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM
Publication Date: 2020-09

Variant appearance in text: KCNH2: 1714G>A; Gly572Ser
PubMed Link: 32383558
Variant Present in the following documents:
  • MGG3-8-e1300-s001.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Medicine
Du, Fengli F; Wang, Guangxin G; Wang, Dawei D; Su, Guoying G; Yao, Guixiang G; Zhang, Wei W; Su, Guohai G
Publication Date: 2020-04

Variant appearance in text: KCNH2: G572S
PubMed Link: 32311972
Variant Present in the following documents:
  • medi-99-e19749.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: HERG: G572S
PubMed Link: 31844156
Variant Present in the following documents:
  • 41598_2019_Article_55837.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: 1714G>A; G572S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.

Scientific Reports
Kerr, Shona M SM; Klaric, Lucija L; Halachev, Mihail M; Hayward, Caroline C; Boutin, Thibaud S TS; Meynert, Alison M AM; Semple, Colin A CA; Tuiskula, Annukka M AM; Swan, Heikki H; Santoyo-Lopez, Javier J; Vitart, Veronique V; Haley, Chris C; Dean, John J; Miedzybrodzka, Zosia Z; Aitman, Timothy J TJ; Wilson, James F JF
Publication Date: 2019-07-29

Variant appearance in text: KCNH2: G572S
PubMed Link: 31358886
Variant Present in the following documents:
  • 41598_2019_Article_47436.pdf
View BVdb publication page



The Brazilian Society of Cardiology and Brazilian Society of Exercise and Sports Medicine Updated Guidelines for Sports and Exercise Cardiology - 2019.

Arquivos Brasileiros De Cardiologia
Ghorayeb, Nabil N; Stein, Ricardo R; Daher, Daniel Jogaib DJ; Silveira, Anderson Donelli da ADD; Ritt, Luiz Eduardo Fonteles LEF; Santos, Daniel Fernando Pellegrino Dos DFPD; Sierra, Ana Paula Rennó APR; Herdy, Artur Haddad AH; Araújo, Claúdio Gil Soares de CGS; Colombo, Cléa Simone Sabino de Souza CSSS; Kopiler, Daniel Arkader DA; Lacerda, Filipe Ferrari Ribeiro de FFR; Lazzoli, José Kawazoe JK; Matos, Luciana Diniz Nagem Janot de LDNJ; Leitão, Marcelo Bichels MB; Francisco, Ricardo Contesini RC; Alô, Rodrigo Otávio Bougleux ROB; Timerman, Sérgio S; Carvalho, Tales de T; Garcia, Thiago Ghorayeb TG
Publication Date: 2019-03

Variant appearance in text: KCNH2: G572S
PubMed Link: 30916199
Variant Present in the following documents:
  • abc-112-03-0326.pdf
View BVdb publication page



Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports
Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR
Publication Date: 2019-03-08

Variant appearance in text: KCNH2: 1714G>A; Gly572Ser
PubMed Link: 30850667
Variant Present in the following documents:
  • Main text
  • 41598_2019_40571_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics
Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H
Publication Date: 2018-04-05

Variant appearance in text: KCNH2: G572S
PubMed Link: 29622001
Variant Present in the following documents:
View BVdb publication page



A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific Reports
Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M
Publication Date: 2018-02-15

Variant appearance in text: Kv11.1: G572S
PubMed Link: 29449639
Variant Present in the following documents:
  • 41598_2018_Article_21442.pdf
View BVdb publication page



Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.

Journal Of Cardiovascular Medicine (Hagerstown, Md.)
Girolami, Francesca F; Frisso, Giulia G; Benelli, Matteo M; Crotti, Lia L; Iascone, Maria M; Mango, Ruggiero R; Mazzaccara, Cristina C; Pilichou, Kalliope K; Arbustini, Eloisa E; Tomberli, Benedetta B; Limongelli, Giuseppe G; Basso, Cristina C; Olivotto, Iacopo I
Publication Date: 2018-01

Variant appearance in text: LQT2: G572S
PubMed Link: 29176389
Variant Present in the following documents:
  • jcarm-19-1.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: 1714G>A; Gly572Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)
Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z
Publication Date: 2017-12

Variant appearance in text: KCNH2: G572S
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Electrophysiological Characteristics of the LQT2 Syndrome Mutation KCNH2-G572S and Regulation by Accessory Protein KCNE2.

Frontiers In Physiology
Liu, Li L; Tian, Jinwen J; Lu, Caiyi C; Chen, Xi X; Fu, Yicheng Y; Xu, Bin B; Zhu, Chao C; Sun, Yanmei Y; Zhang, Yu Y; Zhao, Ying Y; Li, Yang Y
Publication Date: 2016

Variant appearance in text: KCNH2: G572S
PubMed Link: 28082916
Variant Present in the following documents:
  • Main text
  • fphys-07-00650.pdf
View BVdb publication page



QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16

Variant appearance in text: LQT2: 1714G>A
PubMed Link: 26675252
Variant Present in the following documents:
  • Main text
  • JAH3-4-e002395.pdf
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: LQT2: G572S
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: KCNH2: G572S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015

Variant appearance in text: KCNH2: 1714G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



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: HERG: G572S
PubMed Link: 25417810
Variant Present in the following documents:
  • nihms634670.pdf
View BVdb publication page



Long QT syndrome in South Africa: the results of comprehensive genetic screening.

Cardiovascular Journal Of Africa
Hedley, Paula L PL; Durrheim, Glenda A GA; Hendricks, Firzana F; Goosen, Althea A; Jespersgaard, Cathrine C; Støvring, Birgitte B; Pham, Tam T TT; Christiansen, Michael M; Brink, Paul A PA; Corfield, Valerie A VA
Publication Date: 2013-07

Variant appearance in text: Kv11.1: 1714G>A
PubMed Link: 24217263
Variant Present in the following documents:
  • Main text
View BVdb publication page



C-terminal β9-strand of the cyclic nucleotide-binding homology domain stabilizes activated states of Kv11.1 channels.

Plos One
Ng, Chai Ann CA; Ke, Ying Y; Perry, Matthew D MD; Tan, Peter S PS; Hill, Adam P AP; Vandenberg, Jamie I JI
Publication Date: 2013

Variant appearance in text: Kv11.1: G572S
PubMed Link: 24204727
Variant Present in the following documents:
  • pone.0077032.pdf
View BVdb publication page



Computational cardiology: the heart of the matter.

Isrn Cardiology
Trayanova, Natalia A NA
Publication Date: 2012

Variant appearance in text: HERG: G572S
PubMed Link: 23213566
Variant Present in the following documents:
  • ISRN.CARDIOLOGY2012-269680.pdf
View BVdb publication page



Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.

The Canadian Journal Of Cardiology
Lian, Jiangfang J; Huang, Na N; Zhou, Junbo J; Ge, Shijun S; Huang, Xiaoyan X; Huo, Jianhua J; Liu, Liying L; Xu, Weifeng W; Zhang, Shun S; Yang, Xi X; Zhou, Jianqing J; Huang, Chen C
Publication Date: 2010-10

Variant appearance in text: LQT2: G572S
PubMed Link: 20931094
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08

Variant appearance in text: LQT2: G572S
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fluorescence-tracking of activation gating in human ERG channels reveals rapid S4 movement and slow pore opening.

Plos One
Es-Salah-Lamoureux, Zeineb Z; Fougere, Robert R; Xiong, Ping Yu PY; Robertson, Gail A GA; Fedida, David D
Publication Date: 2010-05-28

Variant appearance in text: HERG: G572S
PubMed Link: 20526358
Variant Present in the following documents:
  • pone.0010876.pdf
View BVdb publication page



In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs9333649
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page