KCNQ1 c.712_713delinsTG ;(p.M238W)

Variant ID: 11-2593271-AT-TG

NM_000218.2(KCNQ1):c.712_713delinsTG;(p.M238W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Nature Communications
Hou, Panpan P; Kang, Po Wei PW; Kongmeneck, Audrey Deyawe AD; Yang, Nien-Du ND; Liu, Yongfeng Y; Shi, Jingyi J; Xu, Xianjin X; White, Kelli McFarland KM; Zaydman, Mark A MA; Kasimova, Marina A MA; Seebohm, Guiscard G; Zhong, Ling L; Zou, Xiaoqin X; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2020-02-03

Variant appearance in text: KCNQ1: M238W
PubMed Link: 32015334
Variant Present in the following documents:
  • Main text
  • 41467_2020_14406_MOESM1_ESM.pdf
  • 41467_2020_Article_14406.pdf
View BVdb publication page



KCNE1 remodels the voltage sensor of Kv7.1 to modulate channel function.

Biophysical Journal
Wu, Dick D; Pan, Hua H; Delaloye, Kelli K; Cui, Jianmin J
Publication Date: 2010-12-01

Variant appearance in text: Kv7.1: M238W
PubMed Link: 21112284
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE1 constrains the voltage sensor of Kv7.1 K+ channels.

Plos One
Shamgar, Liora L; Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: M238W
PubMed Link: 18398469
Variant Present in the following documents:
  • Main text
  • pone.0001943.pdf
View BVdb publication page