KCNQ1 c.658_660delinsTGT ;(p.Q220C)

Variant ID: 11-2592608-CAG-TGT

NM_000218.2(KCNQ1):c.658_660delinsTGT;(p.Q220C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Location of KCNE1 relative to KCNQ1 in the I(KS) potassium channel by disulfide cross-linking of substituted cysteines.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chung, David Y DY; Chan, Priscilla J PJ; Bankston, John R JR; Yang, Lin L; Liu, Guoxia G; Marx, Steven O SO; Karlin, Arthur A; Kass, Robert S RS
Publication Date: 2009-01-20

Variant appearance in text: KCNQ1: Q220C
PubMed Link: 19131515
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: Q220C
PubMed Link: 18398461
Variant Present in the following documents:
  • Main text
  • pone.0001935.pdf
View BVdb publication page