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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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