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KCNH2 c.1630_1632delinsTGT ;(p.E544C)
Variant ID: 7-150648849-CTC-ACA
NM_000238.3(
KCNH2
):c.1630_1632delinsTGT;(p.E544C)
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:
Molecular dynamics simulations suggest possible activation and deactivation pathways in the hERG channel.
Communications Biology
Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A
Publication Date: 2022-02-24
Variant appearance in text: HERG: E544C
PubMed Link:
35210539
Variant Present in the following documents:
42003_2022_3074_MOESM1_ESM.pdf
View BVdb publication page
hERG S4-S5 linker acts as a voltage-dependent ligand that binds to the activation gate and locks it in a closed state.
Scientific Reports
Malak, Olfat A OA; Es-Salah-Lamoureux, Zeineb Z; Loussouarn, Gildas G
Publication Date: 2017-03-02
Variant appearance in text: KCNH2: E544C
PubMed Link:
28273916
Variant Present in the following documents:
41598_2017_Article_155.pdf
41598_2017_155_MOESM1_ESM.pdf
View BVdb publication page