KCNQ1 c.1547T>A ;(p.V516D)

Variant ID: 11-2790106-T-A

NM_000218.2(KCNQ1):c.1547T>A;(p.V516D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology
Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2020

Variant appearance in text: KCNQ1: V516D
PubMed Link: 32581825
Variant Present in the following documents:
  • Main text
  • fphys-11-00504.pdf
View BVdb publication page



Heritability in genetic heart disease: the role of genetic background.

Open Heart
Jansweijer, Joeri A JA; van Spaendonck-Zwarts, Karin Y KY; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Christiaans, Imke I; van der Smagt, Jasper J; Vermeer, Alexa A; Bos, J Martijn JM; Moss, Arthur J AJ; Swan, Heikki H; Priori, Sylvia G SG; Rydberg, Annika A; Tfelt-Hansen, Jacob J; Ackerman, Michael J MJ; Olivotto, Iacopo I; Charron, Philippe P; Gimeno, Juan R JR; van den Berg, Maarten M; Wilde, Arthur A M AAM; Pinto, Yigal M YM
Publication Date: 2019

Variant appearance in text: KCNQ1: V516D
PubMed Link: 31245010
Variant Present in the following documents:
  • openhrt-2018-000929supp001.pdf
View BVdb publication page