KCNH2 c.1678_1679delinsGC ;(p.I560A)

Variant ID: 7-150648802-AT-GC

NM_000238.3(KCNH2):c.1678_1679delinsGC;(p.I560A)

This variant was identified in 5 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: I560A
PubMed Link: 31049424
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.

The Journal Of Biological Chemistry
Ng, Chai-Ann CA; Gravel, Andrée E AE; Perry, Matthew D MD; Arnold, Alexandre A AA; Marcotte, Isabelle I; Vandenberg, Jamie I JI
Publication Date: 2016-08-12

Variant appearance in text: Kv11.1: I560A
PubMed Link: 27317659
Variant Present in the following documents:
  • Main text
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: I560A
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



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: I560A
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: I560A
PubMed Link: 20876384
Variant Present in the following documents:
  • Main text
View BVdb publication page