KCNH2 c.157G>C ;(p.G53R)

Variant ID: 7-150671949-C-G

NM_000238.3(KCNH2):c.157G>C;(p.G53R)

This variant was identified in 17 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: 157G>C; rs199472842
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
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: KCNH2: 157G>C; Gly53Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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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: KCNH2: 157G>C; Gly53Arg
PubMed Link: 34923710
Variant Present in the following documents:
  • HUMU-43-1114-s002.xlsx, sheet 1
View BVdb publication page



L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.

American Journal Of Translational Research
Wang, Mi M; Gao, Min M; Fang, Senbiao S; Zheng, Ruoqian R; Peng, Daoquan D; Luo, Qin Q; Yu, Bilian B
Publication Date: 2020

Variant appearance in text: LQT2: G53R
PubMed Link: 33437379
Variant Present in the following documents:
  • Main text
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: KCNH2: 157G>C; Gly53Arg
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
View BVdb publication page



A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ
Publication Date: 2020-10

Variant appearance in text: Kv11.1: G53R
PubMed Link: 32475984
Variant Present in the following documents:
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: LQT2: G53R
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Exploiting ion channel structure to assess rare variant pathogenicity.

Heart Rhythm
Kroncke, Brett M BM; Yang, Tao T; Kannankeril, Prince P; Shoemaker, M Benjamin MB; Roden, Dan M DM
Publication Date: 2018-06

Variant appearance in text: KCNH2: Gly53Arg
PubMed Link: 29330128
Variant Present in the following documents:
  • Main text
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: LQT2: G53R
PubMed Link: 27261823
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: LQT2: G53R
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: KCNH2: G53R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: KCNH2: 157G>C
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica
Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX
Publication Date: 2014-12

Variant appearance in text: KCNH2: G53R
PubMed Link: 25418379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: Kv11.1: G53R
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page



HERG potassium channel regulation by the N-terminal eag domain.

Cellular Signalling
Gustina, Ahleah S AS; Trudeau, Matthew C MC
Publication Date: 2012-08

Variant appearance in text: LQT2: G53R
PubMed Link: 22522181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

Plos One
Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH
Publication Date: 2012

Variant appearance in text: HERG: G53R
PubMed Link: 22396785
Variant Present in the following documents:
  • Main text
  • pone.0032654.pdf
View BVdb publication page



Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

The Journal Of Biological Chemistry
Gianulis, Elena C EC; Trudeau, Matthew C MC
Publication Date: 2011-06-24

Variant appearance in text: LQT2: G53R
PubMed Link: 21536673
Variant Present in the following documents:
  • Main text
View BVdb publication page