KCNH2 c.1663_1664delinsGC ;(p.C555A)

Variant ID: 7-150648817-CA-GC

NM_000238.3(KCNH2):c.1663_1664delinsGC;(p.C555A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: C555A
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: C555A
PubMed Link: 15975984
Variant Present in the following documents:
  • Main text
View BVdb publication page