KCNQ1 c.667_668delinsTG ;(p.A223C)

Variant ID: 11-2592617-GC-TG

NM_000218.2(KCNQ1):c.667_668delinsTG;(p.A223C)

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: A223C
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: A223C
PubMed Link: 24769622
Variant Present in the following documents:
  • Main text
  • nihms-580845.pdf
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: A223C
PubMed Link: 18398461
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.

The Journal Of General Physiology
Nakajo, Koichi K; Kubo, Yoshihiro Y
Publication Date: 2007-09

Variant appearance in text: KCNQ1: A223C
PubMed Link: 17698596
Variant Present in the following documents:
  • Main text
  • jgp1300269.pdf
View BVdb publication page