KCNQ1 c.818_819delinsAA ;(p.L273Q)

Variant ID: 11-2594113-TC-AA

NM_000218.2(KCNQ1):c.818_819delinsAA;(p.L273Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: L273Q
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: L273Q
PubMed Link: 14561821
Variant Present in the following documents:
  • Main text
View BVdb publication page