KCNH2 c.1785A>C ;(p.K595N)

Variant ID: 7-150648696-T-G

NM_000238.3(KCNH2):c.1785A>C;(p.K595N)

This variant was identified in 2 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: K595N
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology
Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI
Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: K595N
PubMed Link: 26958806
Variant Present in the following documents:
  • Main text
View BVdb publication page