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KCNH2 c.1231_1233delinsAAG ;(p.D411K)
Variant ID: 7-150649837-GTC-CTT
NM_000238.3(
KCNH2
):c.1231_1233delinsAAG;(p.D411K)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.
The Journal Of General Physiology
Cheng, Yen May YM; Hull, Christina M CM; Niven, Christine M CM; Qi, Ji J; Allard, Charlene R CR; Claydon, Tom W TW
Publication Date: 2013-09
Variant appearance in text: Kv11.1: D411K
PubMed Link:
23980197
Variant Present in the following documents:
Main text
JGP_201310992.pdf
View BVdb publication page