KCNQ1 c.1057_1058delinsGA ;(p.L353E)

Variant ID: 11-2606466-CT-GA

NM_000218.2(KCNQ1):c.1057_1058delinsGA;(p.L353E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal
Cui, Jianmin J
Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: L353E
PubMed Link: 26745405
Variant Present in the following documents:
  • Main text
View BVdb publication page



The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.

The Journal Of Biological Chemistry
Labro, Alain J AJ; Boulet, Inge R IR; Choveau, Frank S FS; Mayeur, Evy E; Bruyns, Tine T; Loussouarn, Gildas G; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2011-01-07

Variant appearance in text: KCNQ1: L353E
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: L353E
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
View BVdb publication page