KCNQ1 c.691_693delinsGAG ;(p.R231E)

Variant ID: 11-2593250-CGC-GAG

NM_000218.2(KCNQ1):c.691_693delinsGAG;(p.R231E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry
Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR
Publication Date: 2021

Variant appearance in text: KCNQ1: R231E
PubMed Link: 33600800
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



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: R231E
PubMed Link: 32015334
Variant Present in the following documents:
  • 41467_2020_14406_MOESM1_ESM.pdf
View BVdb publication page



The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.

Biochimica Et Biophysica Acta. Biomembranes
Dixit, Gunjan G; Dabney-Smith, Carole C; Lorigan, Gary A GA
Publication Date: 2020-05-01

Variant appearance in text: KCNQ1: R231E
PubMed Link: 31825788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.

Nature Communications
Hou, Panpan P; Eldstrom, Jodene J; Shi, Jingyi J; Zhong, Ling L; McFarland, Kelli K; Gao, Yuan Y; Fedida, David D; Cui, Jianmin J
Publication Date: 2017-11-23

Variant appearance in text: KCNQ1: R231E
PubMed Link: 29167462
Variant Present in the following documents:
View BVdb publication page



Domain-domain interactions determine the gating, permeation, pharmacology, and subunit modulation of the IKs ion channel.

Elife
Zaydman, Mark A MA; Kasimova, Marina A MA; McFarland, Kelli K; Beller, Zachary Z; Hou, Panpan P; Kinser, Holly E HE; Liang, Hongwu H; Zhang, Guohui G; Shi, Jingyi J; Tarek, Mounir M; Cui, Jianmin J
Publication Date: 2014-12-23

Variant appearance in text: KCNQ1: R231E
PubMed Link: 25535795
Variant Present in the following documents:
  • Main text
View BVdb publication page