KCNQ1 c.817_818delinsGC ;(p.L273A)

Variant ID: 11-2594112-CT-GC

NM_000218.2(KCNQ1):c.817_818delinsGC;(p.L273A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: L273A
PubMed Link: 21320432
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

The Journal Of Physiology
Seebohm, Guiscard G; Westenskow, Peter P; Lang, Florian F; Sanguinetti, Michael C MC
Publication Date: 2005-03-01

Variant appearance in text: KCNQ1: L273A
PubMed Link: 15649981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tight coupling of rubidium conductance and inactivation in human KCNQ1 potassium channels.

The Journal Of Physiology
Seebohm, Guiscard G; Sanguinetti, Michael C MC; Pusch, Michael M
Publication Date: 2003-10-15

Variant appearance in text: KCNQ1: L273A
PubMed Link: 14561821
Variant Present in the following documents:
  • Main text
View BVdb publication page