KCNQ1 c.919G>C ;(p.V307L)

Variant ID: 11-2594214-G-C

NM_000218.2(KCNQ1):c.919G>C;(p.V307L)

This variant was identified in 39 publications

View GRCh38 version.




Publications:


Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences
Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H
Publication Date: 2023-06-19

Variant appearance in text: KCNQ1: V307L
PubMed Link: 37122211
Variant Present in the following documents:
  • Main text
  • rstb.2022.0165.pdf
View BVdb publication page



Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

International Journal Of Molecular Sciences
Verkerk, Arie O AO; Wilders, Ronald R
Publication Date: 2023-04-14

Variant appearance in text: KCNQ1: V307L
PubMed Link: 37108427
Variant Present in the following documents:
  • Main text
  • ijms-24-07264.pdf
View BVdb publication page



Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 919G>C; Val307Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.

Medrxiv : The Preprint Server For Health Sciences
Josephs, Katherine S KS; Roberts, Angharad M AM; Theotokis, Pantazis P; Walsh, Roddy R; Ostrowski, Philip J PJ; Edwards, Matthew M; Fleming, Andrew A; Thaxton, Courtney C; Roberts, Jason D JD; Care, Melanie M; Zareba, Wojciech W; Adler, Arnon A; Sturm, Amy C AC; Tadros, Rafik R; Novelli, Valeria V; Owens, Emma E; Bronicki, Lucas L; Jarinova, Olga O; Callewaert, Bert B; Peters, Stacey S; Lumbers, Tom T; Jordan, Elizabeth E; Asatryan, Babken B; Krishnan, Neesha N; Hershberger, Ray E RE; Chahal, C Anwar A CAA; Landstrom, Andrew P AP; James, Cynthia C; McNally, Elizabeth M EM; Judge, Daniel P DP; van Tintelen, Peter P; Wilde, Arthur A; Gollob, Michael M; Ingles, Jodie J; Ware, James S JS
Publication Date: 2023-04-03

Variant appearance in text: KCNQ1: Val307Leu
PubMed Link: 37066275
Variant Present in the following documents:
  • media-2.xlsx, sheet 2
View BVdb publication page



Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal
Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH
Publication Date: 2022-04-14

Variant appearance in text: KCNQ1: Val307Leu
PubMed Link: 34557911
Variant Present in the following documents:
  • Main text
  • ehab687.pdf
View BVdb publication page



Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry
Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR
Publication Date: 2021

Variant appearance in text: KCNQ1: V307L
PubMed Link: 33600800
Variant Present in the following documents:
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2020-10-23

Variant appearance in text: KCNQ1: V307L
PubMed Link: 33095155
Variant Present in the following documents:
  • Main text
  • elife-57680.pdf
View BVdb publication page



The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.

Biochimica Et Biophysica Acta. Biomembranes
Dixit, Gunjan G; Dabney-Smith, Carole C; Lorigan, Gary A GA
Publication Date: 2020-05-01

Variant appearance in text: KCNQ1: V307L
PubMed Link: 31825788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Understanding AF Mechanisms Through Computational Modelling and Simulations.

Arrhythmia & Electrophysiology Review
Aronis, Konstantinos N KN; Ali, Rheeda L RL; Liang, Jialiu A JA; Zhou, Shijie S; Trayanova, Natalia A NA
Publication Date: 2019-07

Variant appearance in text: KCNQ1: V307L
PubMed Link: 31463059
Variant Present in the following documents:
  • Main text
  • aer-08-210.pdf
View BVdb publication page



Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine
Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2019-07-16

Variant appearance in text: KCNQ1: Val307Leu; rs120074195
PubMed Link: 31315195
Variant Present in the following documents:
  • Main text
  • jcm-08-01035.pdf
View BVdb publication page



Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica
Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A
Publication Date: 2019-03

Variant appearance in text: KCNQ1: V307L
PubMed Link: 30930557
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine
Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R
Publication Date: 2018

Variant appearance in text: Kv7.1: Val307Leu
PubMed Link: 30420954
Variant Present in the following documents:
  • Main text
  • fcvm-05-00149.pdf
View BVdb publication page



Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.

Frontiers In Physiology
Whittaker, Dominic G DG; Colman, Michael A MA; Ni, Haibo H; Hancox, Jules C JC; Zhang, Henggui H
Publication Date: 2018

Variant appearance in text: KCNQ1: V307L
PubMed Link: 30337886
Variant Present in the following documents:
  • Main text
View BVdb publication page



Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome.

Physiological Reports
Butler, Andrew A; Zhang, Yihong Y; Stuart, Alan G AG; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2018-09

Variant appearance in text: KCNQ1: V307L
PubMed Link: 30175559
Variant Present in the following documents:
  • PHY2-6-e13845.pdf
View BVdb publication page



Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Journal Of The American Heart Association
El-Battrawy, Ibrahim I; Lan, Huan H; Cyganek, Lukas L; Zhao, Zhihan Z; Li, Xin X; Buljubasic, Fanis F; Lang, Siegfried S; Yücel, Gökhan G; Sattler, Katherine K; Zimmermann, Wolfram-Hubertus WH; Utikal, Jochen J; Wieland, Thomas T; Ravens, Ursula U; Borggrefe, Martin M; Zhou, Xiao-Bo XB; Akin, Ibrahim I
Publication Date: 2018-03-24

Variant appearance in text: KCNQ1: V307L
PubMed Link: 29574456
Variant Present in the following documents:
  • JAH3-7-e007394.pdf
View BVdb publication page



Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.

International Journal For Numerical Methods In Biomedical Engineering
Yuniarti, Ana Rahma AR; Setianto, Febrian F; Marcellinus, Aroli A; Hwang, Han Jeong HJ; Choi, Seong Wook SW; Trayanova, Natalia N; Lim, Ki Moo KM
Publication Date: 2018-06

Variant appearance in text: KCNQ1: V307L
PubMed Link: 29488358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Circulation. Cardiovascular Genetics
Li, Bian B; Mendenhall, Jeffrey L JL; Kroncke, Brett M BM; Taylor, Keenan C KC; Huang, Hui H; Smith, Derek K DK; Vanoye, Carlos G CG; Blume, Jeffrey D JD; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
Publication Date: 2017-10

Variant appearance in text: KCNQ1: V307L
PubMed Link: 29021305
Variant Present in the following documents:
  • Main text
View BVdb publication page



In silico investigation of a KCNQ1 mutation associated with short QT syndrome.

Scientific Reports
Adeniran, Ismail I; Whittaker, Dominic G DG; El Harchi, Aziza A; Hancox, Jules C JC; Zhang, Henggui H
Publication Date: 2017-08-16

Variant appearance in text: KCNQ1: V307L
PubMed Link: 28814790
Variant Present in the following documents:
  • Main text
View BVdb publication page



PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression.

Journal Of Biomedical Science
Ji, Yuan Y; Veldhuis, Marlieke G MG; Zandvoort, Jantien J; Romunde, Fee L FL; Houtman, Marien J C MJC; Duran, Karen K; van Haaften, Gijs G; Zangerl-Plessl, Eva-Maria EM; Takanari, Hiroki H; Stary-Weinzinger, Anna A; van der Heyden, Marcel A G MAG
Publication Date: 2017-07-15

Variant appearance in text: Kv7.1: V307L
PubMed Link: 28711067
Variant Present in the following documents:
  • 12929_2017_Article_352.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: KCNQ1: 919G>C; Val307Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Frontiers In Cardiovascular Medicine
Garcia, John J; Tahiliani, Jackie J; Johnson, Nicole Marie NM; Aguilar, Sienna S; Beltran, Daniel D; Daly, Amy A; Decker, Emily E; Haverfield, Eden E; Herrera, Blanca B; Murillo, Laura L; Nykamp, Keith K; Topper, Scott S
Publication Date: 2016

Variant appearance in text: KCNQ1: Val307Leu
PubMed Link: 27446933
Variant Present in the following documents:
  • Main text
  • fcvm-03-00020.pdf
View BVdb publication page



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: KCNQ1: V307L
PubMed Link: 27261823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Short QT Syndrome - Review of Diagnosis and Treatment.

Arrhythmia & Electrophysiology Review
Rudic, Boris B; Schimpf, Rainer R; Borggrefe, Martin M
Publication Date: 2014-08

Variant appearance in text: KCNQ1: V307L
PubMed Link: 26835070
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: LQT1: V307L
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

Journal Of Geriatric Cardiology : Jgc
Wu, Zhi-Juan ZJ; Huang, Yun Y; Fu, Yi-Cheng YC; Zhao, Xiao-Jing XJ; Zhu, Chao C; Zhang, Yu Y; Xu, Bin B; Zhu, Qing-Lei QL; Li, Yang Y
Publication Date: 2015-07

Variant appearance in text: KCNQ1: V307L
PubMed Link: 26346102
Variant Present in the following documents:
  • Main text
  • jgc-12-04-394.pdf
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: KCNQ1: V307L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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: KCNQ1: 919G>C
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: KCNQ1: V307L
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.pdf
View BVdb publication page



Pro-arrhythmogenic effects of the S140G KCNQ1 mutation in human atrial fibrillation - insights from modelling.

The Journal Of Physiology
Kharche, Sanjay S; Adeniran, Ismail I; Stott, Jonathan J; Law, Phillip P; Boyett, Mark R MR; Hancox, Jules C JC; Zhang, Henggui H
Publication Date: 2012-09-15

Variant appearance in text: N/A
PubMed Link: 22508963
Variant Present in the following documents:
View BVdb publication page



Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Nature Reviews. Cardiology
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2012-01-31

Variant appearance in text: KCNQ1: Val307Leu
PubMed Link: 22290238
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increased vulnerability of human ventricle to re-entrant excitation in hERG-linked variant 1 short QT syndrome.

Plos Computational Biology
Adeniran, Ismail I; McPate, Mark J MJ; Witchel, Harry J HJ; Hancox, Jules C JC; Zhang, Henggui H
Publication Date: 2011-12

Variant appearance in text: KCNQ1: V307L
PubMed Link: 22194679
Variant Present in the following documents:
  • Main text
  • pcbi.1002313.pdf
View BVdb publication page



Short QT syndrome: from bench to bedside.

Circulation. Arrhythmia And Electrophysiology
Patel, Chinmay C; Yan, Gan-Xin GX; Antzelevitch, Charles C
Publication Date: 2010-08

Variant appearance in text: KCNQ1: V307L
PubMed Link: 20716721
Variant Present in the following documents:
  • Main text
View BVdb publication page



Congenital short QT syndrome.

Indian Pacing And Electrophysiology Journal
Crotti, Lia L; Taravelli, Erika E; Girardengo, Giulia G; Schwartz, Peter J PJ
Publication Date: 2010-02-01

Variant appearance in text: KCNQ1: V307L
PubMed Link: 20126594
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacological approach to the treatment of long and short QT syndromes.

Pharmacology & Therapeutics
Patel, Chinmay C; Antzelevitch, Charles C
Publication Date: 2008-04

Variant appearance in text: KCNQ1: V307L
PubMed Link: 18378319
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiac potassium channel dysfunction in sudden infant death syndrome.

Journal Of Molecular And Cellular Cardiology
Rhodes, Troy E TE; Abraham, Robert L RL; Welch, Richard C RC; Vanoye, Carlos G CG; Crotti, Lia L; Arnestad, Marianne M; Insolia, Roberto R; Pedrazzini, Matteo M; Ferrandi, Chiara C; Vege, Ashild A; Rognum, Torleiv T; Roden, Dan M DM; Schwartz, Peter J PJ; George, Alfred L AL
Publication Date: 2008-03

Variant appearance in text: KCNQ1: V307L
PubMed Link: 18222468
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural models for the KCNQ1 voltage-gated potassium channel.

Biochemistry
Smith, Jarrod A JA; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR
Publication Date: 2007-12-11

Variant appearance in text: KCNQ1: Val307Leu
PubMed Link: 17999538
Variant Present in the following documents:
  • Main text
View BVdb publication page



Congenital short QT syndrome.

Indian Pacing And Electrophysiology Journal
Antzelevitch, Charles C; Francis, Johnson J
Publication Date: 2004-04-01

Variant appearance in text: KCNQ1: V307L
PubMed Link: 16943970
Variant Present in the following documents:
  • Main text
  • ipej040046-00.pdf
View BVdb publication page



Tight coupling of rubidium conductance and inactivation in human KCNQ1 potassium channels.

The Journal Of Physiology
Seebohm, Guiscard G; Sanguinetti, Michael C MC; Pusch, Michael M
Publication Date: 2003-10-15

Variant appearance in text: KCNQ1: V307L
PubMed Link: 14561821
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular impact of MinK on the enantiospecific block of I(Ks) by chromanols.

British Journal Of Pharmacology
Lerche, C C; Seebohm, G G; Wagner, C I CI; Scherer, C R CR; Dehmelt, L L; Abitbol, I I; Gerlach, U U; Brendel, J J; Attali, B B; Busch, A E AE
Publication Date: 2000-12

Variant appearance in text: KCNQ1: V307L
PubMed Link: 11139424
Variant Present in the following documents:
  • Main text
View BVdb publication page