KCNQ1 c.682_683delinsGA ;(p.R228E)

Variant ID: 11-2592632-AG-GA

NM_000218.2(KCNQ1):c.682_683delinsGA;(p.R228E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.

Biochimica Et Biophysica Acta. Biomembranes
Dixit, Gunjan G; Dabney-Smith, Carole C; Lorigan, Gary A GA
Publication Date: 2020-05-01

Variant appearance in text: KCNQ1: R228E
PubMed Link: 31825788
Variant Present in the following documents:
  • Main text
View BVdb publication page



Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

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

Variant appearance in text: KCNQ1: R228E
PubMed Link: 26745405
Variant Present in the following documents:
  • Main text
View BVdb publication page



KCNE3 acts by promoting voltage sensor activation in KCNQ1.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Barro-Soria, Rene R; Perez, Marta E ME; Larsson, H Peter HP
Publication Date: 2015-12-29

Variant appearance in text: KCNQ1: R228E
PubMed Link: 26668384
Variant Present in the following documents:
  • Main text
View BVdb publication page