KCNH2 c.1778T>G ;(p.I593R)

Variant ID: 7-150648703-A-C

NM_000238.3(KCNH2):c.1778T>G;(p.I593R)

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: I593R; rs28928904
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: 1778T>G; Ile593Arg
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: KCNH2: I593R
PubMed Link: 36339618
Variant Present in the following documents:
  • fphar-13-1010119.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: LQT2: I593R
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
View BVdb publication page



Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.

Scientific Reports
Foo, Brian B; Barbier, Camille C; Guo, Kevin K; Vasantharuban, Jaminie J; Lukacs, Gergely L GL; Shrier, Alvin A
Publication Date: 2019-04-15

Variant appearance in text: HERG: I593R
PubMed Link: 30988392
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_42331.pdf
View BVdb publication page



Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway.

International Journal Of Molecular Medicine
Ma, Shuting S; Zhao, Yun Y; Cao, Miaomiao M; Sun, Chaofeng C
Publication Date: 2019-03

Variant appearance in text: KCNH2: I593R
PubMed Link: 30628647
Variant Present in the following documents:
  • ijmm-43-03-1253.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: KCNH2: 1778T>G; Ile593Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Molecular pathogenesis of long QT syndrome type 2.

Journal Of Arrhythmia
Smith, Jennifer L JL; Anderson, Corey L CL; Burgess, Don E DE; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP
Publication Date: 2016-10

Variant appearance in text: HERG: I593R
PubMed Link: 27761161
Variant Present in the following documents:
  • 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: N/A
PubMed Link: 26659599
Variant Present in the following documents:
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: I593R
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: 1778T>G
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: I593R
PubMed Link: 25418379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac death.

Frontiers In Physiology
Jagu, Benoît B; Charpentier, Flavien F; Toumaniantz, Gilles G
Publication Date: 2013-09-20

Variant appearance in text: HERG: I593R
PubMed Link: 24065925
Variant Present in the following documents:
  • fphys-04-00254.pdf
View BVdb publication page



Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death.

The Biochemical Journal
Duricka, Deborah L DL; Brown, R Lane RL; Varnum, Michael D MD
Publication Date: 2012-01-15

Variant appearance in text: HERG: I593R
PubMed Link: 21992067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.

The Canadian Journal Of Cardiology
Lian, Jiangfang J; Huang, Na N; Zhou, Junbo J; Ge, Shijun S; Huang, Xiaoyan X; Huo, Jianhua J; Liu, Liying L; Xu, Weifeng W; Zhang, Shun S; Yang, Xi X; Zhou, Jianqing J; Huang, Chen C
Publication Date: 2010-10

Variant appearance in text: LQT2: I593R
PubMed Link: 20931094
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: LQT2: I593R
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
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: rs28928904
PubMed Link: 19214780
Variant Present in the following documents:
  • Main text
View BVdb publication page