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KCNH2 c.1993_1994delinsGC ;(p.R665A)
Variant ID: 7-150648160-CG-GC
NM_000238.3(
KCNH2
):c.1993_1994delinsGC;(p.R665A)
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:
Interactions between amiodarone and the hERG potassium channel pore determined with mutagenesis and in silico docking.
Biochemical Pharmacology
Zhang, Yihong Y; Colenso, Charlotte K CK; El Harchi, Aziza A; Cheng, Hongwei H; Witchel, Harry J HJ; Dempsey, Chris E CE; Hancox, Jules C JC
Publication Date: 2016-08-01
Variant appearance in text: HERG: R665A
PubMed Link:
27256139
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Opposite Effects of the S4-S5 Linker and PIP(2) on Voltage-Gated Channel Function: KCNQ1/KCNE1 and Other Channels.
Frontiers In Pharmacology
Choveau, Frank S FS; Abderemane-Ali, Fayal F; Coyan, Fabien C FC; Es-Salah-Lamoureux, Zeineb Z; BarĂ³, Isabelle I; Loussouarn, Gildas G
Publication Date: 2012
Variant appearance in text: KCNH2: R665A
PubMed Link:
22787448
Variant Present in the following documents:
Main text
fphar-03-00125.pdf
View BVdb publication page