KCNQ1 c.1075_1076delinsGC ;(p.Q359A)

Variant ID: 11-2606484-CA-GC

NM_000218.2(KCNQ1):c.1075_1076delinsGC;(p.Q359A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.

Communications Biology
Liu, Yongfeng Y; Xu, Xianjin X; Gao, Junyuan J; Naffaa, Moawiah M MM; Liang, Hongwu H; Shi, Jingyi J; Wang, Hong Zhan HZ; Yang, Nien-Du ND; Hou, Panpan P; Zhao, Wenshan W; White, Kelli McFarland KM; Kong, Wenjuan W; Dou, Alex A; Cui, Amy A; Zhang, Guohui G; Cohen, Ira S IS; Zou, Xiaoqin X; Cui, Jianmin J
Publication Date: 2020-07-16

Variant appearance in text: KCNQ1: Q359A
PubMed Link: 32678288
Variant Present in the following documents:
  • 42003_2020_1104_MOESM1_ESM.pdf
  • 42003_2020_1104_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Nature Communications
Wrobel, Eva E; Rothenberg, Ina I; Krisp, Christoph C; Hundt, Franziska F; Fraenzel, Benjamin B; Eckey, Karina K; Linders, Joannes T M JT; Gallacher, David J DJ; Towart, Rob R; Pott, Lutz L; Pusch, Michael M; Yang, Tao T; Roden, Dan M DM; Kurata, Harley T HT; Schulze-Bahr, Eric E; Strutz-Seebohm, Nathalie N; Wolters, Dirk D; Seebohm, Guiscard G
Publication Date: 2016-10-12

Variant appearance in text: Kv7.1: Q359A
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
View BVdb publication page



Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: Q359A
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
View BVdb publication page