KCNQ1 c.661_663delinsTGT ;(p.V221C)

Variant ID: 11-2592611-GTG-TGT

NM_000218.2(KCNQ1):c.661_663delinsTGT;(p.V221C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


KCNQ1 channel modulation by KCNE proteins via the voltage-sensing domain.

The Journal Of Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2015-06-15

Variant appearance in text: KCNQ1: V221C
PubMed Link: 25603957
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE1 divides the voltage sensor movement in KCNQ1/KCNE1 channels into two steps.

Nature Communications
Barro-Soria, Rene R; Rebolledo, Santiago S; Liin, Sara I SI; Perez, Marta E ME; Sampson, Kevin J KJ; Kass, Robert S RS; Larsson, H Peter HP
Publication Date: 2014-04-28

Variant appearance in text: KCNQ1: V221C
PubMed Link: 24769622
Variant Present in the following documents:
  • NIHMS580845-supplement-1.pdf
View BVdb publication page



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: V221C
PubMed Link: 23359697
Variant Present in the following documents:
  • Main text
View BVdb publication page



S1 constrains S4 in the voltage sensor domain of Kv7.1 K+ channels.

Plos One
Haitin, Yoni Y; Yisharel, Ilanit I; Malka, Eti E; Shamgar, Liora L; Schottelndreier, Hella H; Peretz, Asher A; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2008-04-09

Variant appearance in text: Kv7.1: V221C
PubMed Link: 18398461
Variant Present in the following documents:
  • Main text
  • pone.0001935.pdf
View BVdb publication page