KCNH2 c.1696_1697delinsGC ;(p.C566A)

Variant ID: 7-150648784-CA-GC

NM_000238.3(KCNH2):c.1696_1697delinsGC;(p.C566A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.

The Journal Of Biological Chemistry
Ferrer, Tania T; Cordero-Morales, Julio F JF; Arias, Marcelo M; Ficker, Eckhard E; Medovoy, David D; Perozo, Eduardo E; Tristani-Firouzi, Martin M
Publication Date: 2011-11-11

Variant appearance in text: KCNH2: C566A
PubMed Link: 21908602
Variant Present in the following documents:
  • Main text
View BVdb publication page



PD-118057 contacts the pore helix of hERG1 channels to attenuate inactivation and enhance K+ conductance.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Matthew M; Sachse, Frank B FB; Abbruzzese, Jennifer J; Sanguinetti, Michael C MC
Publication Date: 2009-11-24

Variant appearance in text: KCNH2: C566A
PubMed Link: 19892732
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly conserved alanine in the S6 domain of the hERG1 K+ channel is required for normal gating.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Brown, Scott S; Sonntag, David P DP; Sanguinetti, Michael C MC
Publication Date: 2008

Variant appearance in text: KCNH2: C566A
PubMed Link: 19088442
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular mapping of a site for Cd2+-induced modification of human ether-à-go-go-related gene (hERG) channel activation.

The Journal Of Physiology
Fernandez, David D; Ghanta, Azad A; Kinard, Krista I KI; Sanguinetti, Michael C MC
Publication Date: 2005-09-15

Variant appearance in text: HERG: C566A
PubMed Link: 15975984
Variant Present in the following documents:
  • Main text
View BVdb publication page