KCNH2 c.167G>A ;(p.R56Q)

Variant ID: 7-150671939-C-T

NM_000238.3(KCNH2):c.167G>A;(p.R56Q)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia
Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S
Publication Date: 2023-06

Variant appearance in text: KCNH2: 167G>A; R56Q; rs199472845
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
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Binding of RPR260243 at the intracellular side of the hERG1 channel pore domain slows closure of the helix bundle crossing gate.

Frontiers In Molecular Biosciences
Zangerl-Plessl, Eva-Maria EM; Wu, Wei W; Sanguinetti, Michael C MC; Stary-Weinzinger, Anna A
Publication Date: 2023

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 36911523
Variant Present in the following documents:
  • Main text
  • fmolb-10-1137368.pdf
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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: 167G>A; Arg56Gln
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine
Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W
Publication Date: 2022

Variant appearance in text: LQT2: R56Q
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
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Ion channel model reduction using manifold boundaries.

Journal Of The Royal Society, Interface
Whittaker, Dominic G DG; Wang, Jiahui J; Shuttleworth, Joseph G JG; Venkateshappa, Ravichandra R; Kemp, Jacob M JM; Claydon, Thomas W TW; Mirams, Gary R GR
Publication Date: 2022-08

Variant appearance in text: HERG: R56Q
PubMed Link: 35946166
Variant Present in the following documents:
  • rsif.2022.0193.pdf
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Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.

Journal Of Arrhythmia
El Harchi, Aziza A; Brincourt, Oriane O
Publication Date: 2022-08

Variant appearance in text: LQT2: R56Q
PubMed Link: 35936037
Variant Present in the following documents:
  • Main text
  • JOA3-38-554.pdf
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Hysteretic hERG channel gating current recorded at physiological temperature.

Scientific Reports
Jones, David K DK
Publication Date: 2022-04-08

Variant appearance in text: KCNH2: R56Q
PubMed Link: 35396394
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_10003.pdf
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Electrophysiological characterization of the hERG R56Q LQTS variant and targeted rescue by the activator RPR260243.

The Journal Of General Physiology
Kemp, Jacob M JM; Whittaker, Dominic G DG; Venkateshappa, Ravichandra R; Pang, ZhaoKai Z; Johal, Raj R; Sergeev, Valentine V; Tibbits, Glen F GF; Mirams, Gary R GR; Claydon, Thomas W TW
Publication Date: 2021-10-04

Variant appearance in text: KCNH2: R56Q
PubMed Link: 34398210
Variant Present in the following documents:
  • Main text
  • JGP_202112923.pdf
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Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology.

Biology Methods & Protocols
Ng, Chai-Ann CA; Farr, Jessica J; Young, Paul P; Windley, Monique J MJ; Perry, Matthew D MD; Hill, Adam P AP; Vandenberg, Jamie I JI
Publication Date: 2021

Variant appearance in text: KCNH2: R56Q
PubMed Link: 33884304
Variant Present in the following documents:
  • Main text
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L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.

American Journal Of Translational Research
Wang, Mi M; Gao, Min M; Fang, Senbiao S; Zheng, Ruoqian R; Peng, Daoquan D; Luo, Qin Q; Yu, Bilian B
Publication Date: 2020

Variant appearance in text: LQT2: R56Q
PubMed Link: 33437379
Variant Present in the following documents:
  • Main text
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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KCNH2: R56Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ
Publication Date: 2020-10

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 32475984
Variant Present in the following documents:
  • Main text
  • nihms-1603463.pdf
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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: R56Q
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
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Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.

Scientific Reports
Foo, Brian B; Barbier, Camille C; Guo, Kevin K; Vasantharuban, Jaminie J; Lukacs, Gergely L GL; Shrier, Alvin A
Publication Date: 2019-04-15

Variant appearance in text: LQT2: R56Q
PubMed Link: 30988392
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42331.pdf
  • 41598_2019_42331_MOESM1_ESM.pdf
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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: KCNH2: R56Q
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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A case of long QT syndrome having compound mutations of KCNH2 and SCN5A.

Journal Of Cardiology Cases
Ito, Saki S; Taketani, Takeshi T; Sugamori, Takashi T; Okada, Taiji T; Sato, Hirotomo H; Adachi, Tomoko T; Takeda, Masaki M; Kodani, Nobuhiro N; Takahashi, Nobuyuki N; Endo, Akihiro A; Yoshitomi, Hiroyuki H; Tanabe, Kazuaki K; Shimizu, Wataru W
Publication Date: 2012-12

Variant appearance in text: KCNH2: Arg56Gln
PubMed Link: 30533098
Variant Present in the following documents:
  • Main text
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The hERG potassium channel intrinsic ligand regulates N- and C-terminal interactions and channel closure.

The Journal Of General Physiology
Codding, Sara J SJ; Trudeau, Matthew C MC
Publication Date: 2019-04-01

Variant appearance in text: KCNH2: R56Q
PubMed Link: 30425124
Variant Present in the following documents:
  • JGP_201812129.pdf
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Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology
Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM
Publication Date: 2018

Variant appearance in text: LQT2: R56Q
PubMed Link: 29725305
Variant Present in the following documents:
  • Main text
  • fphys-09-00397.pdf
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Exploiting ion channel structure to assess rare variant pathogenicity.

Heart Rhythm
Kroncke, Brett M BM; Yang, Tao T; Kannankeril, Prince P; Shoemaker, M Benjamin MB; Roden, Dan M DM
Publication Date: 2018-06

Variant appearance in text: KCNH2: Arg56Gln
PubMed Link: 29330128
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fluid flow modulates electrical activity in cardiac hERG potassium channels.

The Journal Of Biological Chemistry
Roy, Samrat S; Mathew, M K MK
Publication Date: 2018-03-23

Variant appearance in text: HERG: R56Q
PubMed Link: 29305421
Variant Present in the following documents:
  • Main text
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The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.

The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 28280240
Variant Present in the following documents:
  • Main text
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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics
Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS
Publication Date: 2016-06

Variant appearance in text: LQT2: R56Q
PubMed Link: 27261823
Variant Present in the following documents:
  • Main text
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Structure of the Cyclic Nucleotide-Binding Homology Domain of the hERG Channel and Its Insight into Type 2 Long QT Syndrome.

Scientific Reports
Li, Yan Y; Ng, Hui Qi HQ; Li, Qingxin Q; Kang, CongBao C
Publication Date: 2016-03-30

Variant appearance in text: LQT2: R56Q
PubMed Link: 27025590
Variant Present in the following documents:
  • Main text
  • srep23712.pdf
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Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 26958806
Variant Present in the following documents:
  • Main text
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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: R56Q
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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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: R56Q
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Getting to the heart of hERG K(+) channel gating.

The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai-Ann CA; Mann, Stefan A SA; Sadrieh, Arash A; Imtiaz, Mohammad M; Hill, Adam P AP; Vandenberg, Jamie I JI
Publication Date: 2015-06-15

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 25820318
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.

Biophysical Journal
Goodchild, Samuel J SJ; Macdonald, Logan C LC; Fedida, David D
Publication Date: 2015-03-24

Variant appearance in text: LQT2: R56Q
PubMed Link: 25809256
Variant Present in the following documents:
  • Main text
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: 167G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica
Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX
Publication Date: 2014-12

Variant appearance in text: KCNH2: R56Q
PubMed Link: 25418379
Variant Present in the following documents:
  • Main text
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: Kv11.1: R56Q
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
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The enigmatic cytoplasmic regions of KCNH channels.

Journal Of Molecular Biology
Morais-Cabral, João H JH; Robertson, Gail A GA
Publication Date: 2015-01-16

Variant appearance in text: LQT2: R56Q
PubMed Link: 25158096
Variant Present in the following documents:
  • Main text
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Multiple interactions between cytoplasmic domains regulate slow deactivation of Kv11.1 channels.

The Journal Of Biological Chemistry
Ng, Chai Ann CA; Phan, Kevin K; Hill, Adam P AP; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2014-09-12

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 25074935
Variant Present in the following documents:
  • Main text
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Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels.

The Journal Of Biological Chemistry
Thomson, Steven J SJ; Hansen, Angela A; Sanguinetti, Michael C MC
Publication Date: 2014-08-22

Variant appearance in text: LQT2: R56Q
PubMed Link: 25008322
Variant Present in the following documents:
  • Main text
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Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane.

Molecular Biology Of The Cell
Apaja, Pirjo M PM; Foo, Brian B; Okiyoneda, Tsukasa T; Valinsky, William C WC; Barriere, Herve H; Atanasiu, Roxana R; Ficker, Eckhard E; Lukacs, Gergely L GL; Shrier, Alvin A
Publication Date: 2013-12

Variant appearance in text: LQT2: R56Q
PubMed Link: 24152733
Variant Present in the following documents:
  • Main text
  • 3787.pdf
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The structural mechanism of KCNH-channel regulation by the eag domain.

Nature
Haitin, Yoni Y; Carlson, Anne E AE; Zagotta, William N WN
Publication Date: 2013-09-19

Variant appearance in text: LQT2: R56Q
PubMed Link: 23975098
Variant Present in the following documents:
  • Main text
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Mechanistic basis for type 2 long QT syndrome caused by KCNH2 mutations that disrupt conserved arginine residues in the voltage sensor.

The Journal Of Membrane Biology
McBride, Christie M CM; Smith, Ashley M AM; Smith, Jennifer L JL; Reloj, Allison R AR; Velasco, Ellyn J EJ; Powell, Jonathan J; Elayi, Claude S CS; Bartos, Daniel C DC; Burgess, Don E DE; Delisle, Brian P BP
Publication Date: 2013-05

Variant appearance in text: LQT2: R56Q
PubMed Link: 23546015
Variant Present in the following documents:
  • Main text
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MATLAB implementation of a dynamic clamp with bandwidth of >125 kHz capable of generating I Na at 37 °C.

Pflugers Archiv : European Journal Of Physiology
Clausen, Chris C; Valiunas, Virginijus V; Brink, Peter R PR; Cohen, Ira S IS
Publication Date: 2013-04

Variant appearance in text: HERG: R56Q
PubMed Link: 23224681
Variant Present in the following documents:
  • Main text
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Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating.

Circulation
Balijepalli, Sadguna Y SY; Lim, Evi E; Concannon, Sarah P SP; Chew, Chen L CL; Holzem, Kassandra E KE; Tester, David J DJ; Ackerman, Michael J MJ; Delisle, Brian P BP; Balijepalli, Ravi C RC; January, Craig T CT
Publication Date: 2012-12-11

Variant appearance in text: Kv11.1: R56Q
PubMed Link: 23136156
Variant Present in the following documents:
  • Main text
View BVdb publication page



HERG potassium channel regulation by the N-terminal eag domain.

Cellular Signalling
Gustina, Ahleah S AS; Trudeau, Matthew C MC
Publication Date: 2012-08

Variant appearance in text: LQT2: R56Q
PubMed Link: 22522181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

Plos One
Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH
Publication Date: 2012

Variant appearance in text: LQT2: R56Q
PubMed Link: 22396785
Variant Present in the following documents:
  • Main text
  • pone.0032654.pdf
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Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

The Journal Of Biological Chemistry
Gianulis, Elena C EC; Trudeau, Matthew C MC
Publication Date: 2011-06-24

Variant appearance in text: LQT2: R56Q
PubMed Link: 21536673
Variant Present in the following documents:
  • Main text
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Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.

Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01

Variant appearance in text: LQT2: R56Q
PubMed Link: 20876384
Variant Present in the following documents:
  • Main text
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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08

Variant appearance in text: LQT2: R56Q
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
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Dynamic clamp: a powerful tool in cardiac electrophysiology.

The Journal Of Physiology
Wilders, Ronald R
Publication Date: 2006-10-15

Variant appearance in text: HERG: R56Q
PubMed Link: 16873403
Variant Present in the following documents:
  • Main text
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Computational biology in the study of cardiac ion channels and cell electrophysiology.

Quarterly Reviews Of Biophysics
Rudy, Yoram Y; Silva, Jonathan R JR
Publication Date: 2006-02

Variant appearance in text: HERG: R56Q
PubMed Link: 16848931
Variant Present in the following documents:
  • Main text
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Modelling and imaging cardiac repolarization abnormalities.

Journal Of Internal Medicine
Rudy, Y Y
Publication Date: 2006-01

Variant appearance in text: HERG: R56Q
PubMed Link: 16336517
Variant Present in the following documents:
  • Main text
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HERG channel (dys)function revealed by dynamic action potential clamp technique.

Biophysical Journal
Berecki, Géza G; Zegers, Jan G JG; Verkerk, Arie O AO; Bhuiyan, Zahurul A ZA; de Jonge, Berend B; Veldkamp, Marieke W MW; Wilders, Ronald R; van Ginneken, Antoni C G AC
Publication Date: 2005-01

Variant appearance in text: HERG: R56Q
PubMed Link: 15475579
Variant Present in the following documents:
  • Main text
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Structural basis for PAS domain heterodimerization in the basic helix--loop--helix-PAS transcription factor hypoxia-inducible factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Erbel, Paul J A PJ; Card, Paul B PB; Karakuzu, Ozgur O; Bruick, Richard K RK; Gardner, Kevin H KH
Publication Date: 2003-12-23

Variant appearance in text: HERG: R56Q
PubMed Link: 14668441
Variant Present in the following documents:
  • Main text
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Functional characterization of the C-terminus of the human ether-à-go-go-related gene K(+) channel (HERG).

The Journal Of Physiology
Aydar, E E; Palmer, C C
Publication Date: 2001-07-01

Variant appearance in text: HERG: R56Q
PubMed Link: 11432987
Variant Present in the following documents:
  • Main text
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