KCNQ1 c.728G>A ;(p.R243H)

Variant ID: 11-2593287-G-A

NM_000218.2(KCNQ1):c.728G>A;(p.R243H)

This variant was identified in 26 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: 728G>A; Arg243His
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Biomedicines
Homma, Kazuaki K
Publication Date: 2022-09-12

Variant appearance in text: Kv7.1: 728G>A
PubMed Link: 36140355
Variant Present in the following documents:
  • biomedicines-10-02254.pdf
View BVdb publication page



Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.

Anatolian Journal Of Cardiology
Saat, Hanife H; Şahin, İbrahim İ; Erdem, Haktan Bağış HB; Özgür, Senem S; Terlemez Tokgöz, Semiha S; Bahsi, Taha T
Publication Date: 2022-06

Variant appearance in text: KCNQ1: 728G>A
PubMed Link: 35703482
Variant Present in the following documents:
  • ajc-26-6-460.pdf
View BVdb publication page



Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation
Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL
Publication Date: 2022-08

Variant appearance in text: KCNQ1: 728G>A; Arg243His
PubMed Link: 34923710
Variant Present in the following documents:
  • HUMU-43-1114-s002.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 728G>A; Arg243His; rs120074196
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: KCNQ1: 728G>A
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



KCNQs: Ligand- and Voltage-Gated Potassium Channels.

Frontiers In Physiology
Abbott, Geoffrey W GW
Publication Date: 2020

Variant appearance in text: KCNQ1: R243H
PubMed Link: 32655402
Variant Present in the following documents:
  • Main text
  • fphys-11-00583.pdf
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: LQT1: R243H
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: KCNQ1: 728G>A; Arg243His
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 1
View BVdb publication page



"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

Bmc Medical Genetics
Uysal, Fahrettin F; Turkgenc, Burcu B; Toksoy, Guven G; Bostan, Ozlem M OM; Evke, Elif E; Uyguner, Oya O; Yakicier, Cengiz C; Kayserili, Hulya H; Cil, Ergun E; Temel, Sehime G SG
Publication Date: 2017-10-16

Variant appearance in text: KCNQ1: Arg243His
PubMed Link: 29037160
Variant Present in the following documents:
  • Main text
  • 12881_2017_Article_474.pdf
View BVdb publication page



Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12

Variant appearance in text: KCNQ1: Arg243His; rs120074196
PubMed Link: 28027327
Variant Present in the following documents:
  • pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page



Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia
Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M
Publication Date: 2016-10

Variant appearance in text: KCNQ1: R243H
PubMed Link: 27761162
Variant Present in the following documents:
  • Main text
  • main.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: LQT1: R243H
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: R243H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Frontiers In Cellular Neuroscience
Mousavi Nik, Atefeh A; Gharaie, Somayeh S; Jeong Kim, Hyo H
Publication Date: 2015

Variant appearance in text: Kv7.1: R243H
PubMed Link: 25705178
Variant Present in the following documents:
  • Main text
  • fncel-09-00032.pdf
View BVdb publication page



A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.

Plos One
Coyan, Fabien C FC; Abderemane-Ali, Fayal F; Amarouch, Mohamed Yassine MY; Piron, Julien J; Mordel, Jérôme J; Nicolas, Céline S CS; Steenman, Marja M; Mérot, Jean J; Marionneau, Céline C; Thomas, Annick A; Brasseur, Robert R; Baró, Isabelle I; Loussouarn, Gildas G
Publication Date: 2014

Variant appearance in text: KCNQ1: R243H
PubMed Link: 24681627
Variant Present in the following documents:
  • Main text
  • pone.0093255.pdf
View BVdb publication page



Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.

Journal Of The American Heart Association
Couderc, Jean-Philippe JP; Xia, Xiaojuan X; Denjoy, Isabelle I; Extramiana, Fabrice F; Maison-Blanche, Pierre P; Moss, Arthur J AJ; Zareba, Wojciech W; Lopes, Coeli M CM
Publication Date: 2012-04

Variant appearance in text: LQT1: R243H
PubMed Link: 23130128
Variant Present in the following documents:
  • Main text
  • jah3-1-e000570.pdf
View BVdb publication page



KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein.

The Journal Of Biological Chemistry
Meisel, Eshcar E; Dvir, Meidan M; Haitin, Yoni Y; Giladi, Moshe M; Peretz, Asher A; Attali, Bernard B
Publication Date: 2012-10-05

Variant appearance in text: KCNQ1: R243H
PubMed Link: 22908235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Opposite Effects of the S4-S5 Linker and PIP(2) on Voltage-Gated Channel Function: KCNQ1/KCNE1 and Other Channels.

Frontiers In Pharmacology
Choveau, Frank S FS; Abderemane-Ali, Fayal F; Coyan, Fabien C FC; Es-Salah-Lamoureux, Zeineb Z; Baró, Isabelle I; Loussouarn, Gildas G
Publication Date: 2012

Variant appearance in text: KCNQ1: R243H
PubMed Link: 22787448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology
Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F
Publication Date: 2012

Variant appearance in text: KCNQ1: R243H
PubMed Link: 22701429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Journal Of Cardiovascular Disease Research
Gao, Yuanfeng Y; Li, Cuilan C; Liu, Wenling W; Wu, Robby R; Qiu, Xiaoliang X; Liang, Ruijuan R; Li, Lei L; Zhang, Li L; Hu, Dayi D
Publication Date: 2012-04

Variant appearance in text: KCNQ1: R243H
PubMed Link: 22629021
Variant Present in the following documents:
  • JCDR-3-67.pdf
View BVdb publication page



Quantification of repolarization reserve to understand interpatient variability in the response to proarrhythmic drugs: a computational analysis.

Heart Rhythm
Sarkar, Amrita X AX; Sobie, Eric A EA
Publication Date: 2011-11

Variant appearance in text: KCNQ1: R243H
PubMed Link: 21699863
Variant Present in the following documents:
  • Main text
View BVdb publication page



Channelopathies linked to plasma membrane phosphoinositides.

Pflugers Archiv : European Journal Of Physiology
Logothetis, Diomedes E DE; Petrou, Vasileios I VI; Adney, Scott K SK; Mahajan, Rahul R
Publication Date: 2010-07

Variant appearance in text: Kv7.1: R243H
PubMed Link: 20396900
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.

Plos One
Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: R243H
PubMed Link: 18398469
Variant Present in the following documents:
  • Main text
  • pone.0001943.pdf
View BVdb publication page



Kv7.1 (KCNQ1) properties and channelopathies.

The Journal Of Physiology
Peroz, David D; Rodriguez, Nicolas N; Choveau, Frank F; Baró, Isabelle I; Mérot, Jean J; Loussouarn, Gildas G
Publication Date: 2008-04-01

Variant appearance in text: KCNQ1: R243H
PubMed Link: 18174212
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel.

The Embo Journal
Tinel, N N; Diochot, S S; Borsotto, M M; Lazdunski, M M; Barhanin, J J
Publication Date: 2000-12-01

Variant appearance in text: KCNQ1: R243H
PubMed Link: 11101505
Variant Present in the following documents:
  • Main text
View BVdb publication page