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KCNH2 c.58_59delinsGC ;(p.R20A)
Variant ID: 7-150674943-CG-GC
NM_000238.3(
KCNH2
):c.58_59delinsGC;(p.R20A)
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:
Open conformation of hERG channel turrets revealed by a specific scorpion toxin BmKKx2.
Cell & Bioscience
Hu, You-Tian YT; Hu, Jun J; Li, Tian T; Wei, Jing-Jing JJ; Feng, Jing J; Du, Yi-Mei YM; Cao, Zhi-Jian ZJ; Li, Wen-Xin WX; Wu, Ying-Liang YL
Publication Date: 2014
Variant appearance in text: HERG: R20A
PubMed Link:
24725272
Variant Present in the following documents:
2045-3701-4-18.pdf
View BVdb publication page
Voltage-sensing domain mode shift is coupled to the activation gate by the N-terminal tail of hERG channels.
The Journal Of General Physiology
Tan, Peter S PS; Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI; Hill, Adam P AP
Publication Date: 2012-09
Variant appearance in text: HERG: R20A
PubMed Link:
22891279
Variant Present in the following documents:
supp_jgp.201110761_JGP_201110761_sm.pdf
View BVdb publication page
Relative motion of transmembrane segments S0 and S4 during voltage sensor activation in the human BK(Ca) channel.
The Journal Of General Physiology
Pantazis, Antonios A; Kohanteb, Azadeh P AP; Olcese, Riccardo R
Publication Date: 2010-12
Variant appearance in text: HERG: R20A
PubMed Link:
21078868
Variant Present in the following documents:
JGP_201010503.pdf
View BVdb publication page
Probing the outer mouth structure of the HERG channel with peptide toxin footprinting and molecular modeling.
Biophysical Journal
Tseng, Gea-Ny GN; Sonawane, Kailas D KD; Korolkova, Yuliya V YV; Zhang, Mei M; Liu, Jie J; Grishin, Eugene V EV; Guy, H Robert HR
Publication Date: 2007-05-15
Variant appearance in text: HERG: R20A
PubMed Link:
17293393
Variant Present in the following documents:
Main text
View BVdb publication page