KCNQ1 c.1072A>G ;(p.K358E)

Variant ID: 11-2606481-A-G

NM_000218.2(KCNQ1):c.1072A>G;(p.K358E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: K358E
PubMed Link: 25559286
Variant Present in the following documents:
  • Main text
  • srep07474-s1.pdf
  • srep07474.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: K358E
PubMed Link: 23861489
Variant Present in the following documents:
  • Main text
View BVdb publication page