KCNH2 c.98A>C ;(p.N33T)

Variant ID: 7-150672008-T-G

NM_000238.3(KCNH2):c.98A>C;(p.N33T)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


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: 98A>C; Asn33Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: KCNH2: 98A>C; Asn33Thr
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

The Journal Of Biological Chemistry
Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI
Publication Date: 2022-01

Variant appearance in text: LQT2: N33T
PubMed Link: 34801551
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Investigation of PAS and CNBH domain interactions in hERG channels and effects of long-QT syndrome-causing mutations with surface plasmon resonance.

The Journal Of Biological Chemistry
Soohoo, Stephanie M SM; Tiwari, Purushottam B PB; Suzuki, Yuichiro J YJ; Brelidze, Tinatin I TI
Publication Date: 2021-11-18

Variant appearance in text: LQT2: N33T
PubMed Link: 34801551
Variant Present in the following documents:
  • Main text
  • main.pdf
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: N33T
PubMed Link: 33437379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: KCNH2: N33T
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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: N33T
PubMed Link: 32475984
Variant Present in the following documents:
  • Main text
  • nihms-1603463.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: N33T
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 98A>C; N33T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: KCNH2: N33T
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology
Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM
Publication Date: 2018

Variant appearance in text: LQT2: N33T
PubMed Link: 29725305
Variant Present in the following documents:
  • Main text
  • fphys-09-00397.pdf
View BVdb publication page



Fluid flow modulates electrical activity in cardiac hERG potassium channels.

The Journal Of Biological Chemistry
Roy, Samrat S; Mathew, M K MK
Publication Date: 2018-03-23

Variant appearance in text: HERG: N33T
PubMed Link: 29305421
Variant Present in the following documents:
  • Main text
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: 98A>C; Asn33Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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: N33T
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: N33T
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: N33T
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: N33T
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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: N33T
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: N33T
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page



The enigmatic cytoplasmic regions of KCNH channels.

Journal Of Molecular Biology
Morais-Cabral, João H JH; Robertson, Gail A GA
Publication Date: 2015-01-16

Variant appearance in text: LQT2: N33T
PubMed Link: 25158096
Variant Present in the following documents:
  • Main text
View BVdb publication page



The structural mechanism of KCNH-channel regulation by the eag domain.

Nature
Haitin, Yoni Y; Carlson, Anne E AE; Zagotta, William N WN
Publication Date: 2013-09-19

Variant appearance in text: LQT2: N33T
PubMed Link: 23975098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology
Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M
Publication Date: 2012-08-13

Variant appearance in text: KCNH2: N33T
PubMed Link: 22947121
Variant Present in the following documents:
  • Main text
  • 2050-6511-13-6.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: N33T
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: LQT2: N33T
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: N33T
PubMed Link: 21536673
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural basis for PAS domain heterodimerization in the basic helix--loop--helix-PAS transcription factor hypoxia-inducible factor.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Erbel, Paul J A PJ; Card, Paul B PB; Karakuzu, Ozgur O; Bruick, Richard K RK; Gardner, Kevin H KH
Publication Date: 2003-12-23

Variant appearance in text: HERG: N33T
PubMed Link: 14668441
Variant Present in the following documents:
  • Main text
View BVdb publication page