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KCNH2 c.1585_1586delinsGC ;(p.L529A)
Variant ID: 7-150648895-AG-GC
NM_000238.3(
KCNH2
):c.1585_1586delinsGC;(p.L529A)
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:
Lipid regulation of hERG1 channel function.
Nature Communications
Miranda, Williams E WE; Guo, Jiqing J; Mesa-Galloso, Haydee H; Corradi, Valentina V; Lees-Miller, James P JP; Tieleman, D Peter DP; Duff, Henry J HJ; Noskov, Sergei Yu SY
Publication Date: 2021-03-03
Variant appearance in text: HERG: L529A
PubMed Link:
33658490
Variant Present in the following documents:
41467_2021_21681_MOESM2_ESM.pdf
41467_2021_Article_21681.pdf
View BVdb publication page
Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.
The Journal Of General Physiology
Perry, Matthew D MD; Wong, Sophia S; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-09
Variant appearance in text: Kv11.1: L529A
PubMed Link:
23980196
Variant Present in the following documents:
Main text
JGP_201310975.pdf
supp_jgp.201310975_JGP_201310975_sm.pdf
View BVdb publication page