KCNQ1 c.811_812delinsGC ;(p.L271A)

Variant ID: 11-2594106-CT-GC

NM_000218.2(KCNQ1):c.811_812delinsGC;(p.L271A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.

Communications Biology
Wu, Xiaoan X; Perez, Marta E ME; Noskov, Sergei Yu SY; Larsson, H Peter HP
Publication Date: 2021-07-20

Variant appearance in text: KCNQ1: L271A
PubMed Link: 34285340
Variant Present in the following documents:
  • Main text
  • 42003_2021_2418_MOESM5_ESM.pdf
  • 42003_2021_Article_2418.pdf
  • 42003_2021_2418_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Allosteric mechanism for KCNE1 modulation of KCNQ1 potassium channel activation.

Elife
Kuenze, Georg G; Vanoye, Carlos G CG; Desai, Reshma R RR; Adusumilli, Sneha S; Brewer, Kathryn R KR; Woods, Hope H; McDonald, Eli F EF; Sanders, Charles R CR; George, Alfred L AL; Meiler, Jens J
Publication Date: 2020-10-23

Variant appearance in text: KCNQ1: L271A
PubMed Link: 33095155
Variant Present in the following documents:
  • Main text
  • elife-57680.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: L271A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page