KCNQ1 c.1078_1079delinsGA ;(p.R360E)

Variant ID: 11-2606487-AG-GA

NM_000218.2(KCNQ1):c.1078_1079delinsGA;(p.R360E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: R360E
PubMed Link: 33310856
Variant Present in the following documents:
  • Main text
  • abd6798.pdf
View BVdb publication page



Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: R360E
PubMed Link: 33310856
Variant Present in the following documents:
  • Main text
  • abd6798.pdf
View BVdb publication page



PIPâ‚‚-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.

Scientific Reports
Kasimova, Marina A MA; Zaydman, Mark A MA; Cui, Jianmin J; Tarek, Mounir M
Publication Date: 2015-01-06

Variant appearance in text: Kv7.1: R360E
PubMed Link: 25559286
Variant Present in the following documents:
  • Main text
  • srep07474.pdf
  • srep07474-s1.pdf
View BVdb publication page



Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Zaydman, Mark A MA; Silva, Jonathan R JR; Delaloye, Kelli K; Li, Yang Y; Liang, Hongwu H; Larsson, H Peter HP; Shi, Jingyi J; Cui, Jianmin J
Publication Date: 2013-08-06

Variant appearance in text: Kv7.1: R360E
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
View BVdb publication page