KCNH2 c.2781G>A ;(p.W927*)

Variant ID: 7-150644878-C-T

NM_000238.3(KCNH2):c.2781G>A;(p.W927*)

This variant was identified in 11 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: 2781G>A
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
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A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.

Biomedicines
Chen, Chia-Chi CC; Liao, Ruo-Yu RY; Yeh, Fang-Yu FY; Lin, Yu-Rou YR; Wu, Tze-You TY; Pastor, Alexa Escobar AE; Zul, Danny Danilo DD; Hsu, Yun-Chien YC; Wu, Kuan-Yo KY; Liu, Ke-Fang KF; Kannagi, Reiji R; Chen, Jang-Yi JY; Cai, Bi-He BH
Publication Date: 2023-04-28

Variant appearance in text: HERG: W927X
PubMed Link: 37238980
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01310.pdf
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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)
Michorowska, Sylwia S
Publication Date: 2021-08-09

Variant appearance in text: HERG: W927X
PubMed Link: 34451881
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00785.pdf
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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: KCNH2: 2781G>A; Trp927*
PubMed Link: 32893267
Variant Present in the following documents:
  • 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Stop codons and the +4 nucleotide may influence the efficiency of G418 in rescuing nonsense mutations of the HERG gene.

International Journal Of Molecular Medicine
Yu, Haiyun H; Meng, Yanhai Y; Zhang, Shuhong S; Tian, Chen C; Wu, Fang F; Li, Ning N; Li, Qiuyang Q; Jin, Yulan Y; Pu, Jielin J
Publication Date: 2019-12

Variant appearance in text: HERG: W927X
PubMed Link: 31573043
Variant Present in the following documents:
  • Main text
  • ijmm-44-06-2037.pdf
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Isoproterenol suppresses recurrent torsades de pointes in a patient with long QT syndrome type 2.

Heartrhythm Case Reports
Suarez, Keith K; Mack, Ryan R; Hardegree, Evan L EL; Chiles, Christopher C; Banchs, Javier E JE; Gonzalez, Mario D MD
Publication Date: 2018-12

Variant appearance in text: KCNH2: W927X
PubMed Link: 30581736
Variant Present in the following documents:
  • Main text
  • main.pdf
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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: 2781G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology
Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ
Publication Date: 2012-12-18

Variant appearance in text: KCNH2: W927X
PubMed Link: 23158531
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndrome.

Journal Of Molecular And Cellular Cardiology
Gong, Qiuming Q; Stump, Matthew R MR; Zhou, Zhengfeng Z
Publication Date: 2011-01

Variant appearance in text: LQT2: W927X
PubMed Link: 21035456
Variant Present in the following documents:
  • Main text
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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy
Harkcom, William T WT; Abbott, Geoffrey W GW
Publication Date: 2010-08

Variant appearance in text: KCNH2: W927X
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: W927X
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
View BVdb publication page