KCNQ1 c.742_743delinsGC ;(p.W248A)

Variant ID: 11-2593301-TG-GC

NM_000218.2(KCNQ1):c.742_743delinsGC;(p.W248A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A benzodiazepine activator locks Kv7.1 channels open by electro-mechanical uncoupling.

Communications Biology
Schreiber, Julian A JA; Möller, Melina M; Zaydman, Mark M; Zhao, Lu L; Beller, Zachary Z; Becker, Sebastian S; Ritter, Nadine N; Hou, Panpan P; Shi, Jingyi J; Silva, Jon J; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Decher, Niels N; Schmitt, Nicole N; Meuth, Sven G SG; Düfer, Martina M; Wünsch, Bernhard B; Cui, Jianmin J; Seebohm, Guiscard G
Publication Date: 2022-04-01

Variant appearance in text: Kv7.1: W248A
PubMed Link: 35365746
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3229.pdf
  • 42003_2022_3229_MOESM2_ESM.pdf
View BVdb publication page



Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Biophysical Journal
Ma, Li-Juan LJ; Ohmert, Iris I; Vardanyan, Vitya V
Publication Date: 2011-02-16

Variant appearance in text: KCNQ1: W248A
PubMed Link: 21320432
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: W248A
PubMed Link: 21059661
Variant Present in the following documents:
  • Main text
View BVdb publication page