KCNH2 c.47A>C ;(p.D16A)

Variant ID: 7-150674955-T-G

NM_000238.3(KCNH2):c.47A>C;(p.D16A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: LQT2: D16A
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews
Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS
Publication Date: 2017-01

Variant appearance in text: LQT2: D16A
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: LQT2: D16A
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
  • nihms634670.pdf
View BVdb publication page



Voltage-sensing domain mode shift is coupled to the activation gate by the N-terminal tail of hERG channels.

The Journal Of General Physiology
Tan, Peter S PS; Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI; Hill, Adam P AP
Publication Date: 2012-09

Variant appearance in text: HERG: D16A
PubMed Link: 22891279
Variant Present in the following documents:
  • supp_jgp.201110761_JGP_201110761_sm.pdf
View BVdb publication page