KCNQ1 c.929T>G ;(p.V310G)

Variant ID: 11-2604672-T-G

NM_000218.2(KCNQ1):c.929T>G;(p.V310G)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Tuning of EAG K(+) channel inactivation: molecular determinants of amplification by mutations and a small molecule.

The Journal Of General Physiology
Garg, Vivek V; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2012-09

Variant appearance in text: KCNQ1: V310G
PubMed Link: 22930803
Variant Present in the following documents:
  • Main text
  • JGP_201210826.pdf
View BVdb publication page



An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Biophysical Journal
Gibor, Gilad G; Yakubovich, Daniel D; Rosenhouse-Dantsker, Avia A; Peretz, Asher A; Schottelndreier, Hella H; Seebohm, Guiscard G; Dascal, Nathan N; Logothetis, Diomedes E DE; Paas, Yoav Y; Attali, Bernard B
Publication Date: 2007-12-15

Variant appearance in text: KCNQ1: V310G
PubMed Link: 17704175
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: V310G
PubMed Link: 15649981
Variant Present in the following documents:
  • Main text
View BVdb publication page