KCNQ1 c.365G>C ;(p.C122S)

Variant ID: 11-2466693-G-C

NM_000218.2(KCNQ1):c.365G>C;(p.C122S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.

Elife
Taylor, Keenan C KC; Kang, Po Wei PW; Hou, Panpan P; Yang, Nien-Du ND; Kuenze, Georg G; Smith, Jarrod A JA; Shi, Jingyi J; Huang, Hui H; White, Kelli McFarland KM; Peng, Dungeng D; George, Alfred L AL; Meiler, Jens J; McFeeters, Robert L RL; Cui, Jianmin J; Sanders, Charles R CR
Publication Date: 2020-02-25

Variant appearance in text: KCNQ1: C122S
PubMed Link: 32096762
Variant Present in the following documents:
  • Main text
  • elife-53901.pdf
View BVdb publication page



Structural basis for KCNE3 modulation of potassium recycling in epithelia.

Science Advances
Kroncke, Brett M BM; Van Horn, Wade D WD; Smith, Jarrod J; Kang, CongBao C; Welch, Richard C RC; Song, Yuanli Y; Nannemann, David P DP; Taylor, Keenan C KC; Sisco, Nicholas J NJ; George, Alfred L AL; Meiler, Jens J; Vanoye, Carlos G CG; Sanders, Charles R CR
Publication Date: 2016-09

Variant appearance in text: KCNQ1: Cys122Ser
PubMed Link: 27626070
Variant Present in the following documents:
  • Main text
  • 1501228.pdf
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: C122S
PubMed Link: 12770875
Variant Present in the following documents:
  • Main text
View BVdb publication page