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KCNH2 c.1864_1865delinsGC ;(p.L622A)
Variant ID: 7-150648616-AG-GC
NM_000238.3(
KCNH2
):c.1864_1865delinsGC;(p.L622A)
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: L622A
PubMed Link:
27256139
Variant Present in the following documents:
Main text
main.pdf
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: L622A
PubMed Link:
19892732
Variant Present in the following documents:
Main text
View BVdb publication page