KCNQ1 c.1016T>G ;(p.F339C)

Variant ID: 11-2604759-T-G

NM_000218.2(KCNQ1):c.1016T>G;(p.F339C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: F339C
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
View BVdb publication page



Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.

Biophysical Journal
Xu, Yu Y; Wang, Yuhong Y; Meng, Xuan-Yu XY; Zhang, Mei M; Jiang, Min M; Cui, Meng M; Tseng, Gea-Ny GN
Publication Date: 2013-12-03

Variant appearance in text: KCNQ1: F339C
PubMed Link: 24314077
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction of KCNE subunits with the KCNQ1 K+ channel pore.

The Journal Of Physiology
Panaghie, Gianina G; Tai, Kwok-Keung KK; Abbott, Geoffrey W GW
Publication Date: 2006-02-01

Variant appearance in text: KCNQ1: F339C
PubMed Link: 16308347
Variant Present in the following documents:
  • Main text
View BVdb publication page