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KCNH2 c.1396_1397delinsTG ;(p.D466C)
Variant ID: 7-150649673-TC-CA
NM_000238.3(
KCNH2
):c.1396_1397delinsTG;(p.D466C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
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: D466C
PubMed Link:
15545400
Variant Present in the following documents:
Main text
View BVdb publication page
Negative charges in the transmembrane domains of the HERG K channel are involved in the activation- and deactivation-gating processes.
The Journal Of General Physiology
Liu, Jie J; Zhang, Mei M; Jiang, Min M; Tseng, Gea-Ny GN
Publication Date: 2003-06
Variant appearance in text: HERG: D466C
PubMed Link:
12771194
Variant Present in the following documents:
Main text
200308788.pdf
View BVdb publication page