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KCNQ1 c.1618_1620delinsAAG ;(p.D540K)
Variant ID: 11-2797217-GAC-AAG
NM_000218.2(
KCNQ1
):c.1618_1620delinsAAG;(p.D540K)
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:
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: KCNQ1: D540K
PubMed Link:
28273916
Variant Present in the following documents:
Main text
41598_2017_Article_155.pdf
View BVdb publication page
Opposite Effects of the S4-S5 Linker and PIP(2) on Voltage-Gated Channel Function: KCNQ1/KCNE1 and Other Channels.
Frontiers In Pharmacology
Choveau, Frank S FS; Abderemane-Ali, Fayal F; Coyan, Fabien C FC; Es-Salah-Lamoureux, Zeineb Z; BarĂ³, Isabelle I; Loussouarn, Gildas G
Publication Date: 2012
Variant appearance in text: KCNQ1: D540K
PubMed Link:
22787448
Variant Present in the following documents:
Main text
fphar-03-00125.pdf
View BVdb publication page