KCNQ1 c.820_821delinsTG ;(p.I274C)

Variant ID: 11-2594115-AT-TG

NM_000218.2(KCNQ1):c.820_821delinsTG;(p.I274C)

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: I274C
PubMed Link: 35365746
Variant Present in the following documents:
  • Main text
  • 42003_2022_3229_MOESM1_ESM.pdf
  • 42003_2022_Article_3229.pdf
  • 42003_2022_3229_MOESM2_ESM.pdf
View BVdb publication page



Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2020-10-23

Variant appearance in text: KCNQ1: I274C
PubMed Link: 33095155
Variant Present in the following documents:
  • Main text
  • elife-57680.pdf
View BVdb publication page