Bibliome.ai browser hg19
Search
About
Stats
FAQ
KCNH2 c.1948_1949delinsGC ;(p.L650A)
Variant ID: 7-150648205-AG-GC
NM_000238.3(
KCNH2
):c.1948_1949delinsGC;(p.L650A)
This variant was identified in 3 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: L650A
PubMed Link:
27256139
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.
Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01
Variant appearance in text: LQT2: L650A
PubMed Link:
20876384
Variant Present in the following documents:
Main text
View BVdb publication page
Structural basis of action for a human ether-a-go-go-related gene 1 potassium channel activator.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Matthew M; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2007-08-21
Variant appearance in text: KCNH2: L650A
PubMed Link:
17693551
Variant Present in the following documents:
Main text
View BVdb publication page