KCNH2 c.1546G>T ;(p.G516C)

Variant ID: 7-150649524-C-A

NM_000238.3(KCNH2):c.1546G>T;(p.G516C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.

Biophysical Journal
Goodchild, Samuel J SJ; Macdonald, Logan C LC; Fedida, David D
Publication Date: 2015-03-24

Variant appearance in text: LQT2: G516C
PubMed Link: 25809256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proline scan of the HERG channel S6 helix reveals the location of the intracellular pore gate.

Biophysical Journal
Thouta, Samrat S; Sokolov, Stanislav S; Abe, Yuki Y; Clark, Sheldon J SJ; Cheng, Yen M YM; Claydon, Tom W TW
Publication Date: 2014-03-04

Variant appearance in text: Kv11.1: G516C
PubMed Link: 24606930
Variant Present in the following documents:
  • Main text
View BVdb publication page