KCNQ1 c.742T>C ;(p.W248R)

Variant ID: 11-2593301-T-C

NM_000218.2(KCNQ1):c.742T>C;(p.W248R)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 742T>C; Trp248Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Electro-mechanical coupling of KCNQ channels is a target of epilepsy-associated mutations and retigabine.

Science Advances
Yang, Nien-Du ND; Kanyo, Richard R; Zhao, Lu L; Li, Jingru J; Kang, Po Wei PW; Dou, Alex Kelly AK; White, Kelli McFarland KM; Shi, Jingyi J; Nerbonne, Jeanne M JM; Kurata, Harley T HT; Cui, Jianmin J
Publication Date: 2022-07-22

Variant appearance in text: KCNQ1: W248R
PubMed Link: 35857840
Variant Present in the following documents:
  • Main text
  • sciadv.abo3625.pdf
View BVdb publication page



Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.

Nature Communications
Willegems, Katrien K; Eldstrom, Jodene J; Kyriakis, Efthimios E; Ataei, Fariba F; Sahakyan, Harutyun H; Dou, Ying Y; Russo, Sophia S; Van Petegem, Filip F; Fedida, David D
Publication Date: 2022-06-29

Variant appearance in text: KCNQ1: W248R
PubMed Link: 35768468
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_31526.pdf
View BVdb publication page



shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.

International Journal Of Molecular Sciences
Cócera-Ortega, Lucía L; Wilders, Ronald R; Kamps, Selina C SC; Fabrizi, Benedetta B; Huber, Irit I; van der Made, Ingeborg I; van den Bout, Anouk A; de Vries, Dylan K DK; Gepstein, Lior L; Verkerk, Arie O AO; Pinto, Yigal M YM; Tijsen, Anke J AJ
Publication Date: 2022-04-06

Variant appearance in text: KCNQ1: W248R
PubMed Link: 35409410
Variant Present in the following documents:
  • Main text
  • ijms-23-04053.pdf
View BVdb publication page



A benzodiazepine activator locks Kv7.1 channels open by electro-mechanical uncoupling.

Communications Biology
Schreiber, Julian A JA; Möller, Melina M; Zaydman, Mark M; Zhao, Lu L; Beller, Zachary Z; Becker, Sebastian S; Ritter, Nadine N; Hou, Panpan P; Shi, Jingyi J; Silva, Jon J; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Decher, Niels N; Schmitt, Nicole N; Meuth, Sven G SG; Düfer, Martina M; Wünsch, Bernhard B; Cui, Jianmin J; Seebohm, Guiscard G
Publication Date: 2022-04-01

Variant appearance in text: Kv7.1: W248R
PubMed Link: 35365746
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3229.pdf
  • 42003_2022_3229_MOESM2_ESM.pdf
View BVdb publication page



Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.

Human Genome Variation
Matsuda, Shinichi S; Ohnuki, Yuko Y; Okami, Mayuri M; Ochiai, Eriko E; Yamada, Shiro S; Takahashi, Kazumi K; Osawa, Motoki M; Okami, Kenji K; Iida, Masahiro M; Mochizuki, Hiroyuki H
Publication Date: 2020

Variant appearance in text: KCNQ1: Trp248Arg
PubMed Link: 33082985
Variant Present in the following documents:
  • Main text
  • 41439_2020_Article_121.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: KCNQ1: 742T>C; Trp248Arg
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.

Communications Biology
Liu, Yongfeng Y; Xu, Xianjin X; Gao, Junyuan J; Naffaa, Moawiah M MM; Liang, Hongwu H; Shi, Jingyi J; Wang, Hong Zhan HZ; Yang, Nien-Du ND; Hou, Panpan P; Zhao, Wenshan W; White, Kelli McFarland KM; Kong, Wenjuan W; Dou, Alex A; Cui, Amy A; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2020-07-16

Variant appearance in text: KCNQ1: W248R
PubMed Link: 32678288
Variant Present in the following documents:
  • 42003_2020_1104_MOESM1_ESM.pdf
View BVdb publication page



Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03

Variant appearance in text: Kv7.1: W248R
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.pdf
  • 41467_2020_14406_MOESM2_ESM.pdf
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: KCNQ1: 742T>C; W248R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families.

Journal Of Arrhythmia
Amirian, Azam A; Zafari, Zahra Z; Dalili, Mohammad M; Saber, Siamak S; Karimipoor, Morteza M; Dabbagh Bagheri, Samira S; Fazelifar, Amir Farjam AF; Zeinali, Sirous S
Publication Date: 2018-06

Variant appearance in text: KCNQ1: W248R
PubMed Link: 29951145
Variant Present in the following documents:
  • Main text
  • JOA3-34-286.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: KCNQ1: 742T>C; Trp248Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: W248R
PubMed Link: 26745405
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: LQT1: W248R
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: KCNQ1: W248R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.

Frontiers In Pharmacology
Sun, Xiaohui X; Zaydman, Mark A MA; Cui, Jianmin J
Publication Date: 2012

Variant appearance in text: KCNQ1: W248R
PubMed Link: 22529812
Variant Present in the following documents:
  • Main text
  • fphar-03-00063.pdf
View BVdb publication page