KCNQ1 c.565G>C ;(p.G189R)

Variant ID: 11-2591945-G-C

NM_000218.2(KCNQ1):c.565G>C;(p.G189R)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


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: 565G>C; Gly189Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: G189R
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
View BVdb publication page



Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: G189R
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
View BVdb publication page



Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal
Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; Spätjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA
Publication Date: 2021-12-07

Variant appearance in text: KCNQ1: G189R
PubMed Link: 34505893
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: KCNQ1: G189R
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
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: KCNQ1: 565G>C; Gly189Arg
PubMed Link: 32383558
Variant Present in the following documents:
  • MGG3-8-e1300-s001.xlsx, sheet 1
View BVdb publication page



Heritability in genetic heart disease: the role of genetic background.

Open Heart
Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM
Publication Date: 2019

Variant appearance in text: KCNQ1: G189R
PubMed Link: 31245010
Variant Present in the following documents:
  • openhrt-2018-000929supp001.pdf
View BVdb publication page



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: KCNQ1: G189R
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.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: KCNQ1: G189R
PubMed Link: 27807201
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: G189R
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: KCNQ1: G189R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.

Circulation
Barsheshet, Alon A; Goldenberg, Ilan I; O-Uchi, Jin J; Moss, Arthur J AJ; Jons, Christian C; Shimizu, Wataru W; Wilde, Arthur A AA; McNitt, Scott S; Peterson, Derick R DR; Zareba, Wojciech W; Robinson, Jennifer L JL; Ackerman, Michael J MJ; Cypress, Michael M; Gray, Daniel A DA; Hofman, Nynke N; Kanters, Jorgen K JK; Kaufman, Elizabeth S ES; Platonov, Pyotr G PG; Qi, Ming M; Towbin, Jeffrey A JA; Vincent, G Michael GM; Lopes, Coeli M CM
Publication Date: 2012-04-24

Variant appearance in text: LQT1: G189R
PubMed Link: 22456477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Bmc Medical Genetics
Zhang, Xianqin X; Chen, Shenghan S; Zhang, Li L; Liu, Mugen M; Redfearn, Sharon S; Bryant, Randall M RM; Oberti, Carlos C; Vincent, G Michael GM; Wang, Qing K QK
Publication Date: 2008-09-23

Variant appearance in text: KCNQ1: G189R
PubMed Link: 18808722
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-87.pdf
View BVdb publication page



Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation
Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S
Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: G189R
PubMed Link: 17470695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcription factor MEF2A mutations in patients with coronary artery disease.

Human Molecular Genetics
Bhagavatula, M R Krishna MR; Fan, Chun C; Shen, Gong-Qing GQ; Cassano, June J; Plow, Edward F EF; Topol, Eric J EJ; Wang, Qing Q
Publication Date: 2004-12-15

Variant appearance in text: KCNQ1: G189R
PubMed Link: 15496429
Variant Present in the following documents:
  • Main text
View BVdb publication page