KCNQ1 c.577T>C ;(p.F193L)

Variant ID: 11-2591957-T-C

NM_000218.2(KCNQ1):c.577T>C;(p.F193L)

This variant was identified in 6 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: 577T>C; Phe193Leu
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: F193L
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • fphar-11-00550.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



Fatty acid analogue N-arachidonoyl taurine restores function of IKs channels with diverse long QT mutations.

Elife
Liin, Sara I SI; Larsson, Johan E JE; Barro-Soria, Rene R; Bentzen, Bo Hjorth BH; Larsson, H Peter HP
Publication Date: 2016-09-30

Variant appearance in text: KCNQ1: F193L
PubMed Link: 27690226
Variant Present in the following documents:
  • Main text
  • elife-20272.pdf
View BVdb publication page



Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European Heart Journal
Amin, Ahmad S AS; Giudicessi, John R JR; Tijsen, Anke J AJ; Spanjaart, Anne M AM; Reckman, Yolan J YJ; Klemens, Christine A CA; Tanck, Michael W MW; Kapplinger, Jamie D JD; Hofman, Nynke N; Sinner, Moritz F MF; Müller, Martina M; Wijnen, Wino J WJ; Tan, Hanno L HL; Bezzina, Connie R CR; Creemers, Esther E EE; Wilde, Arthur A M AA; Ackerman, Michael J MJ; Pinto, Yigal M YM
Publication Date: 2012-03

Variant appearance in text: KCNQ1: F193L
PubMed Link: 22199116
Variant Present in the following documents:
View BVdb publication page



Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

The Journal Of General Physiology
Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D
Publication Date: 2010-05

Variant appearance in text: KCNQ1: F193L
PubMed Link: 20421371
Variant Present in the following documents:
  • JGP_200910351.pdf
View BVdb publication page



The role of the epinephrine test in the diagnosis and management of children suspected of having congenital long QT syndrome.

Pediatric Cardiology
Clur, Sally-Ann B SA; Chockalingam, Priya P; Filippini, Luc H LH; Widyanti, Ari P AP; Van Cruijsen, Marc M; Blom, Nico A NA; Alders, Mariel M; Hofman, Nynke N; Wilde, Arthur A M AA
Publication Date: 2010-05

Variant appearance in text: KCNQ1: Phe193Leu
PubMed Link: 19957170
Variant Present in the following documents:
  • Main text
View BVdb publication page