KCNQ1 c.722T>C ;(p.V241A)

Variant ID: 11-2593281-T-C

NM_000218.2(KCNQ1):c.722T>C;(p.V241A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A benzodiazepine activator locks Kv7.1 channels open by electro-mechanical uncoupling.

Communications Biology
Schreiber, Julian A JA; Möller, Melina M; Zaydman, Mark M; Zhao, Lu L; Beller, Zachary Z; Becker, Sebastian S; Ritter, Nadine N; Hou, Panpan P; Shi, Jingyi J; Silva, Jon J; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Decher, Niels N; Schmitt, Nicole N; Meuth, Sven G SG; Düfer, Martina M; Wünsch, Bernhard B; Cui, Jianmin J; Seebohm, Guiscard G
Publication Date: 2022-04-01

Variant appearance in text: KCNQ1: V241A
PubMed Link: 35365746
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3229.pdf
  • 42003_2022_3229_MOESM2_ESM.pdf
View BVdb publication page



KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Nature Communications
Wrobel, Eva E; Rothenberg, Ina I; Krisp, Christoph C; Hundt, Franziska F; Fraenzel, Benjamin B; Eckey, Karina K; Linders, Joannes T M JT; Gallacher, David J DJ; Towart, Rob R; Pott, Lutz L; Pusch, Michael M; Yang, Tao T; Roden, Dan M DM; Kurata, Harley T HT; Schulze-Bahr, Eric E; Strutz-Seebohm, Nathalie N; Wolters, Dirk D; Seebohm, Guiscard G
Publication Date: 2016-10-12

Variant appearance in text: Kv7.1: V241A
PubMed Link: 27731317
Variant Present in the following documents:
  • Main text
  • ncomms12795.pdf
View BVdb publication page