KCNQ1 c.1069_1070delinsGC ;(p.Q357A)

Variant ID: 11-2606478-CA-GC

NM_000218.2(KCNQ1):c.1069_1070delinsGC;(p.Q357A)

This variant was identified in 2 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: Q357A
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: Q357A
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
View BVdb publication page