KCNH2 c.1585_1586delinsTC ;(p.L529S)

Variant ID: 7-150648895-AG-GA

NM_000238.3(KCNH2):c.1585_1586delinsTC;(p.L529S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Heliyon
Butler, Andrew A; Zhang, Yihong Y; Stuart, A Graham AG; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2019-04

Variant appearance in text: LQT2: L529S
PubMed Link: 31049424
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.

The Journal Of General Physiology
Perry, Matthew D MD; Wong, Sophia S; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-09

Variant appearance in text: Kv11.1: L529S
PubMed Link: 23980196
Variant Present in the following documents:
  • Main text
  • JGP_201310975.pdf
  • supp_jgp.201310975_JGP_201310975_sm.pdf
View BVdb publication page