KCNQ1 c.997T>G ;(p.S333A)

Variant ID: 11-2604740-T-G

NM_000218.2(KCNQ1):c.997T>G;(p.S333A)

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: S333A
PubMed Link: 27731317
Variant Present in the following documents:
  • ncomms12795.pdf
View BVdb publication page



Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: S333A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page