KCNH2 c.2690A>G ;(p.K897R)

Variant ID: 7-150645534-T-C

NM_000238.3(KCNH2):c.2690A>G;(p.K897R)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


The relationship between glucose and the liver-alpha cell axis - A systematic review.

Frontiers In Endocrinology
Pixner, Thomas T; Stummer, Nathalie N; Schneider, Anna Maria AM; Lukas, Andreas A; Gramlinger, Karin K; Julian, Valérie V; Thivel, David D; Mörwald, Katharina K; Mangge, Harald H; Dalus, Christopher C; Aigner, Elmar E; Furthner, Dieter D; Weghuber, Daniel D; Maruszczak, Katharina K
Publication Date: 2022

Variant appearance in text: rs1805123
PubMed Link: 36686477
Variant Present in the following documents:
  • Main text
  • fendo-13-1061682.pdf
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Genetic Polymorphisms of Very Important Pharmacogene Variants in the Blang Population from Yunnan Province in China.

Pharmacogenomics And Personalized Medicine
Wang, Yuliang Y; Peng, Linna L; Lu, Hongyan H; Zhang, Zhanhao Z; Xing, Shishi S; Li, Dandan D; He, Chunjuan C; Jin, Tianbo T; Wang, Li L
Publication Date: 2021

Variant appearance in text: rs1805123
PubMed Link: 34949935
Variant Present in the following documents:
  • Main text
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In vivo identification and validation of novel potential predictors for human cardiovascular diseases.

Plos One
Hammouda, Omar T OT; Wu, Meng Yue MY; Kaul, Verena V; Gierten, Jakob J; Thumberger, Thomas T; Wittbrodt, Joachim J
Publication Date: 2021

Variant appearance in text: rs1805123
PubMed Link: 34919578
Variant Present in the following documents:
  • Main text
  • pone.0261572.pdf
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In vivo identification and validation of novel potential predictors for human cardiovascular diseases.

Plos One
Hammouda, Omar T OT; Wu, Meng Yue MY; Kaul, Verena V; Gierten, Jakob J; Thumberger, Thomas T; Wittbrodt, Joachim J
Publication Date: 2021

Variant appearance in text: rs1805123
PubMed Link: 34919578
Variant Present in the following documents:
  • Main text
  • pone.0261572.pdf
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Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China.

Bmc Genomic Data
Li, Dandan D; Peng, Linna L; Xing, Shishi S; He, Chunjuan C; Jin, Tianbo T
Publication Date: 2021-11-19

Variant appearance in text: rs1805123
PubMed Link: 34798807
Variant Present in the following documents:
  • Main text
  • 12863_2021_Article_999.pdf
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Towards Understanding the Genetic Nature of Vasovagal Syncope.

International Journal Of Molecular Sciences
Matveeva, Natalia N; Titov, Boris B; Bazyleva, Elizabeth E; Pevzner, Alexander A; Favorova, Olga O
Publication Date: 2021-09-24

Variant appearance in text: rs1805123
PubMed Link: 34638656
Variant Present in the following documents:
  • Main text
  • ijms-22-10316.pdf
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Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population.

Pharmacogenomics And Personalized Medicine
He, Chunjuan C; Peng, Linna L; Xing, Shishi S; Li, Dandan D; Wang, Li L; Jin, Tianbo T
Publication Date: 2021

Variant appearance in text: rs1805123
PubMed Link: 34429635
Variant Present in the following documents:
  • Main text
  • pgpm-14-1027.pdf
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Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Annals Of Clinical And Translational Neurology
Soh, Ming S MS; Bagnall, Richard D RD; Bennett, Mark F MF; Bleakley, Lauren E LE; Mohamed Syazwan, Erlina S ES; Phillips, A Marie AM; Chiam, Mathew D F MDF; McKenzie, Chaseley E CE; Hildebrand, Michael M; Crompton, Douglas D; Bahlo, Melanie M; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA
Publication Date: 2021-07

Variant appearance in text: KCNH2: K897R
PubMed Link: 34002542
Variant Present in the following documents:
  • Main text
  • ACN3-8-1422.pdf
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KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine
Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,
Publication Date: 2020-12

Variant appearance in text: rs1805123
PubMed Link: 33141630
Variant Present in the following documents:
  • hcg-13-e003133-s001.pdf
View BVdb publication page



The contribution of non-coding regulatory elements to cardiovascular disease.

Open Biology
Villar, Diego D; Frost, Stephanie S; Deloukas, Panos P; Tinker, Andrew A
Publication Date: 2020-07

Variant appearance in text: rs1805123
PubMed Link: 32603637
Variant Present in the following documents:
  • rsob-10-200088.pdf
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PHARMIP: An insilico method to predict genetics that underpin adverse drug reactions.

Methodsx
Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Mahmoud, Amal A; Hashem, Medhat H MH; Hemeida, Alaa A AA
Publication Date: 2020

Variant appearance in text: rs1805123
PubMed Link: 32123669
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs1805123
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
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Associations between common ion channel single nucleotide polymorphisms and sudden cardiac death in adults: A MOOSE-compliant meta-analysis.

Medicine
Liu, Xiaoli X; Shi, Jianli J; Xiao, Peilin P
Publication Date: 2018-09

Variant appearance in text: rs1805123
PubMed Link: 30235722
Variant Present in the following documents:
  • Main text
  • medi-97-e12428.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs1805123
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population.

Scientific Reports
Saracyn, Marek M; Kisiel, Bartłomiej B; Bachta, Artur A; Franaszczyk, Maria M; Brodowska-Kania, Dorota D; Żmudzki, Wawrzyniec W; Szymański, Konrad K; Sokalski, Antoni A; Klatko, Wiesław W; Stopiński, Marek M; Grochowski, Janusz J; Papliński, Marek M; Goździk, Zdzisław Z; Niemczyk, Longin L; Bober, Barbara B; Kołodziej, Maciej M; Tłustochowicz, Witold W; Kamiński, Grzegorz G; Płoski, Rafał R; Niemczyk, Stanisław S
Publication Date: 2018-06-18

Variant appearance in text: rs1805123
PubMed Link: 29915175
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_27382.pdf
View BVdb publication page



ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-01

Variant appearance in text: rs1805123
PubMed Link: 29874175
Variant Present in the following documents:
  • Main text
  • hcg-11-e001758.pdf
  • hcg-11-e001758-s001.pdf
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: KCNH2: Lys897Arg
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 1
  • gutjnl-2017-314549supp010.xlsx, sheet 17
View BVdb publication page



Pharmacogenetics of Opioid Use Disorder Treatment.

Cns Drugs
Crist, Richard C RC; Clarke, Toni-Kim TK; Berrettini, Wade H WH
Publication Date: 2018-04

Variant appearance in text: rs1805123
PubMed Link: 29623639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common variants in the hERG (KCNH2) voltage-gated potassium channel are associated with altered fasting and glucose-stimulated plasma incretin and glucagon responses.

Bmc Genetics
Engelbrechtsen, Line L; Mahendran, Yuvaraj Y; Jonsson, Anna A; Gjesing, Anette Prior AP; Weeke, Peter E PE; Jørgensen, Marit E ME; Færch, Kristine K; Witte, Daniel R DR; Holst, Jens J JJ; Jørgensen, Torben T; Grarup, Niels N; Pedersen, Oluf O; Vestergaard, Henrik H; Torekov, Signe S; Kanters, Jørgen K JK; Hansen, Torben T
Publication Date: 2018-03-16

Variant appearance in text: rs1805123
PubMed Link: 29548277
Variant Present in the following documents:
  • Main text
  • 12863_2018_Article_602.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: rs1805123
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Niu, Tianhua T; Liu, Ning N; Yu, Xun X; Zhao, Ming M; Choi, Hyung Jin HJ; Leo, Paul J PJ; Brown, Matthew A MA; Zhang, Lei L; Pei, Yu-Fang YF; Shen, Hui H; He, Hao H; Fu, Xiaoying X; Lu, Shan S; Chen, Xiang-Ding XD; Tan, Li-Jun LJ; Yang, Tie-Lin TL; Guo, Yan Y; Cho, Nam H NH; Shen, Jie J; Guo, Yan-Fang YF; Nicholson, Geoffrey C GC; Prince, Richard L RL; Eisman, John A JA; Jones, Graeme G; Sambrook, Philip N PN; Tian, Qing Q; Zhu, Xue-Zhen XZ; Papasian, Christopher J CJ; Duncan, Emma L EL; Uitterlinden, André G AG; Shin, Chan Soo CS; Xiang, Shuanglin S; Deng, Hong-Wen HW
Publication Date: 2016-02

Variant appearance in text: rs1805123
PubMed Link: 26256109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated With Atrial Fibrillation and PR Interval Following Cardiac Surgery.

Journal Of Cardiothoracic And Vascular Anesthesia
Sigurdsson, Martin I MI; Muehlschlegel, Jochen D JD; Fox, Amanda A AA; Heydarpour, Mahyar M; Lichtner, Peter P; Meitinger, Thomas T; Collard, Charles D CD; Shernan, Stanton K SK; Body, Simon C SC
Publication Date: 2015

Variant appearance in text: rs1805123
PubMed Link: 26009287
Variant Present in the following documents:
  • Main text
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: 2690A>G
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Single nucleotide polymorphisms in proximity to K-channel genes are associated with decreased longitudinal QTc variance.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Mints, Yuliya Y; Zipunnikov, Vadim V; Khurram, Irfan I; Calkins, Hugh H; Nazarian, Saman S
Publication Date: 2014-01

Variant appearance in text: rs1805123
PubMed Link: 24460807
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

The Journal Of Pediatrics
Chang, Ruey-Kang R RK; Lan, Yueh-Tze YT; Silka, Michael J MJ; Morrow, Hallie H; Kwong, Alan A; Smith-Lang, Janna J; Wallerstein, Robert R; Lin, Henry J HJ
Publication Date: 2014-03

Variant appearance in text: KCNH2: 2690A>G
PubMed Link: 24388587
Variant Present in the following documents:
  • Main text
View BVdb publication page



Major channels involved in neuropsychiatric disorders and therapeutic perspectives.

Frontiers In Genetics
Imbrici, Paola P; Camerino, Diana Conte DC; Tricarico, Domenico D
Publication Date: 2013

Variant appearance in text: rs1805123
PubMed Link: 23675382
Variant Present in the following documents:
  • Main text
View BVdb publication page



The KCNH2 genetic polymorphism (1956, C>T) is a novel biomarker that is associated with CCB and α,β-ADR blocker response in EH patients in China.

Plos One
He, Fazhong F; Luo, Jianquan J; Luo, Zhiying Z; Fan, Lan L; He, Yijing Y; Zhu, Dingliang D; Gao, Jinping J; Deng, Sheng S; Wang, Yan Y; Qian, Yuesheng Y; Zhou, Honghao H; Chen, Xiaoping X; Zhang, Wei W
Publication Date: 2013

Variant appearance in text: rs1805123
PubMed Link: 23613831
Variant Present in the following documents:
  • Main text
  • pone.0061317.pdf
View BVdb publication page



Lessons from pharmacogenetics and metoclopramide: toward the right dose of the right drug for the right patient.

Journal Of Clinical Gastroenterology
Camilleri, Michael M; Shin, Andrea A
Publication Date: 2012-07

Variant appearance in text: rs1805123
PubMed Link: 22688139
Variant Present in the following documents:
  • Main text
View BVdb publication page



What are the important subsets of gastroparesis?

Neurogastroenterology And Motility : The Official Journal Of The European Gastrointestinal Motility Society
Camilleri, M M; Grover, M M; Farrugia, G G
Publication Date: 2012-07

Variant appearance in text: rs1805123
PubMed Link: 22626059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study.

Circulation. Cardiovascular Genetics
Noseworthy, Peter A PA; Havulinna, Aki S AS; Porthan, Kimmo K; Lahtinen, Annukka M AM; Jula, Antti A; Karhunen, Pekka J PJ; Perola, Markus M; Oikarinen, Lasse L; Kontula, Kimmo K KK; Salomaa, Veikko V; Newton-Cheh, Christopher C
Publication Date: 2011-06

Variant appearance in text: rs1805123
PubMed Link: 21511878
Variant Present in the following documents:
  • Main text
View BVdb publication page



R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

Heart Rhythm
Bartos, Daniel C DC; Duchatelet, Sabine S; Burgess, Don E DE; Klug, Didier D; Denjoy, Isabelle I; Peat, Rachel R; Lupoglazoff, Jean-Marc JM; Fressart, Véronique V; Berthet, Myriam M; Ackerman, Michael J MJ; January, Craig T CT; Guicheney, Pascale P; Delisle, Brian P BP
Publication Date: 2011-01

Variant appearance in text: rs1805123
PubMed Link: 20850564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two four-marker haplotypes on 7q36.1 region indicate that the potassium channel gene HERG1 (KCNH2, Kv11.1) is related to schizophrenia: a case control study.

Behavioral And Brain Functions : Bbf
Atalar, Fatmahan F; Acuner, Tufan Tevfik TT; Cine, Naci N; Oncu, Fatih F; Yesilbursa, Dogan D; Ozbek, Ugur U; Turkcan, Solmaz S
Publication Date: 2010-05-28

Variant appearance in text: rs1805123
PubMed Link: 20507645
Variant Present in the following documents:
  • Main text
  • 1744-9081-6-27.pdf
View BVdb publication page



In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12

Variant appearance in text: rs1805123
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page