KCNQ1 c.1030_1032delinsTGT ;(p.A344C)

Variant ID: 11-2604773-GCG-TGT

NM_000218.2(KCNQ1):c.1030_1032delinsTGT;(p.A344C)

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: A344C
PubMed Link: 27731317
Variant Present in the following documents:
  • Main text
  • ncomms12795.pdf
View BVdb publication page



Differential roles of S6 domain hinges in the gating of KCNQ potassium channels.

Biophysical Journal
Seebohm, Guiscard G; Strutz-Seebohm, Nathalie N; Ureche, Oana N ON; Baltaev, Ravshan R; Lampert, Angelika A; Kornichuk, Ganna G; Kamiya, Kaichiro K; Wuttke, Thomas V TV; Lerche, Holger H; Sanguinetti, Michael C MC; Lang, Florian F
Publication Date: 2006-03-15

Variant appearance in text: KCNQ1: A344C
PubMed Link: 16326905
Variant Present in the following documents:
  • Main text
View BVdb publication page