KCNQ1 c.1018T>C ;(p.F340L)

Variant ID: 11-2604761-T-C

NM_000218.2(KCNQ1):c.1018T>C;(p.F340L)

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: 1018T>C; Phe340Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Predicting the functional impact of KCNQ1 variants with artificial neural networks.

Plos Computational Biology
Phul, Saksham S; Kuenze, Georg G; Vanoye, Carlos G CG; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2022-04

Variant appearance in text: KCNQ1: F340L
PubMed Link: 35442947
Variant Present in the following documents:
  • Main text
  • pcbi.1010038.pdf
View BVdb publication page



Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.

Frontiers In Cardiovascular Medicine
Tse, Gary G; Lee, Sharen S; Zhou, Jiandong J; Liu, Tong T; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Jeevaratnam, Kamalan K; Zhang, Qingpeng Q; Cheng, Shuk Han SH; Wong, Wing Tak WT
Publication Date: 2021

Variant appearance in text: KCNQ1: 1018T>C
PubMed Link: 33614747
Variant Present in the following documents:
  • Main text
  • fcvm-08-608592.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: KCNQ1: F340L
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
View BVdb publication page



Long QT Syndrome Type 1 in an Australian Indigenous Patient.

Circulation. Genomic And Precision Medicine
Ganesan, Anand N AN; Vanoye, Carlos G CG; Alam, Ferdous F; Waddell-Smith, Kathryn E KE; McGavigan, Andrew D AD; Correnti, Gemma G; Haan, Eric E; Brown, Alex A; Vandenberg, Jamie J; George, Alfred L AL
Publication Date: 2020-04

Variant appearance in text: KCNQ1: 1018T>C; F340L
PubMed Link: 32004091
Variant Present in the following documents:
  • Main text
View BVdb publication page