KCNH2 c.1573A>C ;(p.K525Q)

Variant ID: 7-150648908-T-G

NM_000238.3(KCNH2):c.1573A>C;(p.K525Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.

The Journal Of General Physiology
Cheng, Yen May YM; Hull, Christina M CM; Niven, Christine M CM; Qi, Ji J; Allard, Charlene R CR; Claydon, Tom W TW
Publication Date: 2013-09

Variant appearance in text: Kv11.1: K525Q
PubMed Link: 23980197
Variant Present in the following documents:
  • Main text
  • JGP_201310992.pdf
View BVdb publication page



Transfer of rolf S3-S4 linker to HERG eliminates activation gating but spares inactivation.

Biophysical Journal
Choveau, Frank S FS; El Harchi, Aziza A; Rodriguez, Nicolas N; Louérat-Oriou, Bénédicte B; Baró, Isabelle I; Demolombe, Sophie S; Charpentier, Flavien F; Loussouarn, Gildas G
Publication Date: 2009-09-02

Variant appearance in text: KCNH2: K525Q
PubMed Link: 19720020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tryptophan scanning mutagenesis of the HERG K+ channel: the S4 domain is loosely packed and likely to be lipid exposed.

The Journal Of Physiology
Subbiah, Rajesh N RN; Kondo, Mari M; Campbell, Terence J TJ; Vandenberg, Jamie I JI
Publication Date: 2005-12-01

Variant appearance in text: HERG: K525Q
PubMed Link: 16166152
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of slow activation of the human ether-a-go-go related gene potassium channel.

The Journal Of Physiology
Subbiah, Rajesh N RN; Clarke, Catherine E CE; Smith, David J DJ; Zhao, JingTing J; Campbell, Terence J TJ; Vandenberg, Jamie I JI
Publication Date: 2004-07-15

Variant appearance in text: HERG: K525Q
PubMed Link: 15181157
Variant Present in the following documents:
  • Main text
View BVdb publication page