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KCNH2 c.1960_1961delinsGC ;(p.S654A)
Variant ID: 7-150648193-CT-GC
NM_000238.3(
KCNH2
):c.1960_1961delinsGC;(p.S654A)
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:
Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.
The Journal Of Biological Chemistry
Ng, Chai-Ann CA; Gravel, Andrée E AE; Perry, Matthew D MD; Arnold, Alexandre A AA; Marcotte, Isabelle I; Vandenberg, Jamie I JI
Publication Date: 2016-08-12
Variant appearance in text: Kv11.1: S654A
PubMed Link:
27317659
Variant Present in the following documents:
Main text
View BVdb publication page
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: S654A
PubMed Link:
27256139
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page