KCNH2 c.1690_1691delinsGC ;(p.L564A)

Variant ID: 7-150648790-AG-GC

NM_000238.3(KCNH2):c.1690_1691delinsGC;(p.L564A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: L564A
PubMed Link: 23980196
Variant Present in the following documents:
  • Main text
  • supp_jgp.201310975_JGP_201310975_sm.pdf
  • JGP_201310975.pdf
View BVdb publication page



Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

The Journal Of Biological Chemistry
Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-04-19

Variant appearance in text: Kv11.1: L564A
PubMed Link: 23471968
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.

Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01

Variant appearance in text: LQT2: L564A
PubMed Link: 20876384
Variant Present in the following documents:
  • Main text
View BVdb publication page