KCNQ1 c.706_707delinsGC ;(p.L236A)

Variant ID: 11-2593265-CT-GC

NM_000218.2(KCNQ1):c.706_707delinsGC;(p.L236A)

This variant was identified in 1 publication

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: L236A
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