KCNH2 c.1553A>C ;(p.E518A)

Variant ID: 7-150649517-T-G

NM_000238.3(KCNH2):c.1553A>C;(p.E518A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular determinants of pentamidine-induced hERG trafficking inhibition.

Molecular Pharmacology
Dennis, Adrienne T AT; Wang, Lu L; Wan, Hanlin H; Nassal, Drew D; Deschenes, Isabelle I; Ficker, Eckhard E
Publication Date: 2012-02

Variant appearance in text: HERG: E518A
PubMed Link: 22046004
Variant Present in the following documents:
  • Main text
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Intracellular potassium stabilizes human ether-à-go-go-related gene channels for export from endoplasmic reticulum.

Molecular Pharmacology
Wang, Lu L; Dennis, Adrienne T AT; Trieu, Phan P; Charron, Francois F; Ethier, Natalie N; Hebert, Terence E TE; Wan, Xiaoping X; Ficker, Eckhard E
Publication Date: 2009-04

Variant appearance in text: HERG: E518A
PubMed Link: 19139152
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: E518A
PubMed Link: 15975984
Variant Present in the following documents:
  • Main text
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A novel extracellular calcium sensing mechanism in voltage-gated potassium ion channels.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Johnson, J P JP; Balser, J R JR; Bennett, P B PB
Publication Date: 2001-06-15

Variant appearance in text: HERG: E518A
PubMed Link: 11404399
Variant Present in the following documents:
  • Main text
View BVdb publication page