KCNH2 c.2684C>T ;(p.T895M)

Variant ID: 7-150645540-G-A

NM_000238.3(KCNH2):c.2684C>T;(p.T895M)

This variant was identified in 13 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: 2684C>T; rs199473434
PubMed Link: 37324772
Variant Present in the following documents:
  • Main text
  • JOA3-39-430.pdf
View BVdb publication page



Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells
Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F
Publication Date: 2021-11-15

Variant appearance in text: KCNH2: T895M
PubMed Link: 34831398
Variant Present in the following documents:
  • Main text
  • cells-10-03175.pdf
View BVdb publication page



Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Frontiers In Physiology
Belletti, Rebecca R; Romero, Lucia L; Martinez-Mateu, Laura L; Cherry, Elizabeth M EM; Fenton, Flavio H FH; Saiz, Javier J
Publication Date: 2021

Variant appearance in text: KCNH2: T895M
PubMed Link: 34135774
Variant Present in the following documents:
  • Main text
  • fphys-12-681943.pdf
View BVdb publication page



Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg
Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS
Publication Date: 2021-07

Variant appearance in text: KCNH2: 2684C>T; Thr895Met
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine
Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH
Publication Date: 2020-08

Variant appearance in text: KCNH2: T895M
PubMed Link: 32449611
Variant Present in the following documents:
  • MGG3-8-e1309-s002.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: KCNH2: 2684C>T; Thr895Met; rs199473434
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26

Variant appearance in text: KCNH2: T895M
PubMed Link: 29088863
Variant Present in the following documents:
  • oncotarget-08-75264-s003.xls, sheet 2
View BVdb publication page



Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)
Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z
Publication Date: 2017-12

Variant appearance in text: KCNH2: T895M
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
  • 40709_2017_Article_63.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KCNH2: 2684C>T; T895M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015

Variant appearance in text: KCNH2: 2684C>T; Thr895Met; rs199473434
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls, sheet 1
View BVdb publication page



Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications
Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z
Publication Date: 2014-05-08

Variant appearance in text: KCNH2: T895M
PubMed Link: 24807215
Variant Present in the following documents:
  • ncomms4830-s10.xls, sheet 1
View BVdb publication page



Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology
Wilders, Ronald R
Publication Date: 2012

Variant appearance in text: KCNH2: T895M
PubMed Link: 23304551
Variant Present in the following documents:
  • Main text
  • ISRN.CARDIOLOGY2012-846171.pdf
View BVdb publication page



An informatics approach to analyzing the incidentalome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Berg, Jonathan S JS; Adams, Michael M; Nassar, Nassib N; Bizon, Chris C; Lee, Kristy K; Schmitt, Charles P CP; Wilhelmsen, Kirk C KC; Evans, James P JP
Publication Date: 2013-01

Variant appearance in text: KCNH2: 2684C>T; T895M
PubMed Link: 22995991
Variant Present in the following documents:
  • Main text
View BVdb publication page