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KCNH2 c.1591_1592delinsGC ;(p.R531A)
Variant ID: 7-150648889-CG-GC
NM_000238.3(
KCNH2
):c.1591_1592delinsGC;(p.R531A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.
The Journal Of General Physiology
Perry, Matthew D MD; Wong, Sophia S; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-09
Variant appearance in text: Kv11.1: R531A
PubMed Link:
23980196
Variant Present in the following documents:
Main text
supp_jgp.201310975_JGP_201310975_sm.pdf
JGP_201310975.pdf
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: R531A
PubMed Link:
15975984
Variant Present in the following documents:
Main text
View BVdb publication page