KCNQ1 c.350C>T ;(p.P117L)

Variant ID: 11-2466678-C-T

NM_000218.2(KCNQ1):c.350C>T;(p.P117L)

This variant was identified in 19 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: 350C>T; Pro117Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: KCNQ1: 350C>T; Pro117Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology
Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE
Publication Date: 2022

Variant appearance in text: KCNQ1: P117L
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.pdf
View BVdb publication page



KCNQ1-deficient and KCNQ1-mutant human embryonic stem cell-derived cardiomyocytes for modeling QT prolongation.

Stem Cell Research & Therapy
Song, Yuanxiu Y; Guo, Tianwei T; Jiang, Youxu Y; Zhu, Min M; Wang, Hongyue H; Lu, Wenjing W; Jiang, Mengqi M; Qi, Man M; Lan, Feng F; Cui, Ming M
Publication Date: 2022-06-28

Variant appearance in text: KCNQ1: P117L
PubMed Link: 35765105
Variant Present in the following documents:
  • Main text
  • 13287_2022_Article_2964.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: KCNQ1: 350C>T; Pro117Leu
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
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: P117L
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
  • Table_1.xlsx, sheet 1
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: P117L
PubMed Link: 30930557
Variant Present in the following documents:
  • Main text
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: P117L; rs120074191
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Circulation. Genomic And Precision Medicine
Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL
Publication Date: 2018-11

Variant appearance in text: KCNQ1: P117L
PubMed Link: 30571187
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science
Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH
Publication Date: 2018-08-06

Variant appearance in text: KCNQ1: P117L
PubMed Link: 30079003
Variant Present in the following documents:
  • Main text
  • jkms-33-e200.pdf
View BVdb publication page



Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances
Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR
Publication Date: 2018-03

Variant appearance in text: KCNQ1: P117L
PubMed Link: 29532034
Variant Present in the following documents:
  • Main text
  • aar2631.pdf
  • aar2631_SM.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: 350C>T; Pro117Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: P117L
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of the Carboxyl Terminus Helix C-D Linker in Regulating KCNQ3 K+ Current Amplitudes by Controlling Channel Trafficking.

Plos One
Choveau, Frank S FS; Zhang, Jie J; Bierbower, Sonya M SM; Sharma, Ramaswamy R; Shapiro, Mark S MS
Publication Date: 2015

Variant appearance in text: KCNQ1: P117L
PubMed Link: 26692086
Variant Present in the following documents:
  • Main text
  • pone.0145367.pdf
View BVdb publication page



Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology
Wilders, Ronald R
Publication Date: 2012

Variant appearance in text: KCNQ1: P117L
PubMed Link: 23304551
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regions of KCNQ K(+) channels controlling functional expression.

Frontiers In Physiology
Choveau, Frank S FS; Shapiro, Mark S MS
Publication Date: 2012

Variant appearance in text: KCNQ1: P117L
PubMed Link: 23087646
Variant Present in the following documents:
  • Main text
  • fphys-03-00397.pdf
View BVdb publication page



Sudden infant death syndrome: do ion channels play a role?

Heart Rhythm
Van Norstrand, David W DW; Ackerman, Michael J MJ
Publication Date: 2009-02

Variant appearance in text: KCNQ1: P117L
PubMed Link: 18823823
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: P117L
PubMed Link: 18222468
Variant Present in the following documents:
  • Main text
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: P117L
PubMed Link: 18174212
Variant Present in the following documents:
  • Main text
View BVdb publication page