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KCNH2 c.1556A>C ;(p.E519A)
Variant ID: 7-150649514-T-G
NM_000238.3(
KCNH2
):c.1556A>C;(p.E519A)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
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: E519A
PubMed Link:
22046004
Variant Present in the following documents:
Main text
View BVdb publication page
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: E519A
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: E519A
PubMed Link:
15975984
Variant Present in the following documents:
Main text
View BVdb publication page
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: E519A
PubMed Link:
11404399
Variant Present in the following documents:
Main text
View BVdb publication page