KCNQ1 c.572T>C ;(p.L191P)

Variant ID: 11-2591952-T-C

NM_000218.2(KCNQ1):c.572T>C;(p.L191P)

This variant was identified in 5 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: 572T>C; Leu191Pro
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
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: KCNQ1: L191P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Acta Cardiologica Sinica
Dehghani-Samani, Amir A; Madreseh-Ghahfarokhi, Samin S; Dehghani-Samani, Azam A
Publication Date: 2019-03

Variant appearance in text: KCNQ1: L191P
PubMed Link: 30930557
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: LQT1: L191P
PubMed Link: 20670193
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Human Mutation
Liu, Wenling W; Yang, Junguo J; Hu, Dayi D; Kang, Cailian C; Li, Cuilan C; Zhang, Shuoyan S; Li, Ping P; Chen, Zhijian Z; Qin, Xuguang X; Ying, Kang K; Li, Yuntian Y; Li, Yushu Y; Li, Zhiming Z; Cheng, Xin X; Li, Lei L; Qi, Yu Y; Chen, Shenghan S; Wang, Qing Q
Publication Date: 2002-12

Variant appearance in text: KCNQ1: L191P
PubMed Link: 12442276
Variant Present in the following documents:
  • Main text
View BVdb publication page