KCNH2 c.196T>G ;(p.C66G)

Variant ID: 7-150671910-A-C

NM_000238.3(KCNH2):c.196T>G;(p.C66G)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


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: C66G
PubMed Link: 33437379
Variant Present in the following documents:
  • Main text
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: C66G
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: C66G
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Allelic Complexity in Long QT Syndrome: A Family-Case Study.

International Journal Of Molecular Sciences
Zullo, Alberto A; Frisso, Giulia G; Detta, Nicola N; Sarubbi, Berardo B; Romeo, Emanuele E; Cordella, Angela A; Vanoye, Carlos G CG; Calabrò, Raffaele R; George, Alfred L AL; Salvatore, Francesco F
Publication Date: 2017-07-27

Variant appearance in text: KCNH2: C66G
PubMed Link: 28749435
Variant Present in the following documents:
  • Main text
  • ijms-18-01633.pdf
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: C66G
PubMed Link: 27261823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: C66G
PubMed Link: 26958806
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: C66G
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: C66G
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: 196T>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: C66G
PubMed Link: 25418379
Variant Present in the following documents:
  • Main text
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: C66G
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: C66G
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: C66G
PubMed Link: 21536673
Variant Present in the following documents:
  • Main text
View BVdb publication page