KCNQ1 c.992G>C ;(p.C331S)

Variant ID: 11-2604735-G-C

NM_000218.2(KCNQ1):c.992G>C;(p.C331S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


IKs channels open slowly because KCNE1 accessory subunits slow the movement of S4 voltage sensors in KCNQ1 pore-forming subunits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ruscic, Katarina J KJ; Miceli, Francesco F; Villalba-Galea, Carlos A CA; Dai, Hui H; Mishina, Yukiko Y; Bezanilla, Francisco F; Goldstein, Steve A N SA
Publication Date: 2013-02-12

Variant appearance in text: KCNQ1: C331S
PubMed Link: 23359697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pore- and state-dependent cadmium block of I(Ks) channels formed with MinK-55C and wild-type KCNQ1 subunits.

Biophysical Journal
Chen, Haijun H; Sesti, Federico F; Goldstein, Steve A N SA
Publication Date: 2003-06

Variant appearance in text: KCNQ1: C331S
PubMed Link: 12770875
Variant Present in the following documents:
  • Main text
View BVdb publication page