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KCNH2 c.1591_1593delinsTGT ;(p.R531C)
Variant ID: 7-150648888-CCG-ACA
NM_000238.3(
KCNH2
):c.1591_1593delinsTGT;(p.R531C)
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:
Clarithromycin inhibits autophagy in colorectal cancer by regulating the hERG1 potassium channel interaction with PI3K.
Cell Death & Disease
Petroni, Giulia G; Bagni, Giacomo G; Iorio, Jessica J; Duranti, Claudia C; Lottini, Tiziano T; Stefanini, Matteo M; Kragol, Goran G; Becchetti, Andrea A; Arcangeli, Annarosa A
Publication Date: 2020-03-02
Variant appearance in text: Kv11.1: R531C
PubMed Link:
32123164
Variant Present in the following documents:
Main text
41419_2020_Article_2349.pdf
View BVdb publication page
Gating charges in the activation and inactivation processes of the HERG channel.
The Journal Of General Physiology
Zhang, Mei M; Liu, Jie J; Tseng, Gea-Ny GN
Publication Date: 2004-12
Variant appearance in text: HERG: R531C
PubMed Link:
15545400
Variant Present in the following documents:
Main text
200409119.pdf
View BVdb publication page