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.




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