KCNQ1 c.1402_1403delinsGA ;(p.S468D)

Variant ID: 11-2683199-AG-GA

NM_000218.2(KCNQ1):c.1402_1403delinsGA;(p.S468D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Protein kinase A stimulates Kv7.1 surface expression by regulating Nedd4-2-dependent endocytic trafficking.

American Journal Of Physiology. Cell Physiology
Andersen, Martin N MN; Hefting, Louise L LL; Steffensen, Annette B AB; Schmitt, Nicole N; Olesen, Søren-Peter SP; Olsen, Jesper V JV; Lundby, Alicia A; Rasmussen, Hanne B HB
Publication Date: 2015-11-15

Variant appearance in text: Kv7.1: S468D
PubMed Link: 26405101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Probing the mechanisms underlying modulation of quinidine sensitivity to cardiac I(Ks) block by protein kinase A-mediated I(Ks) phosphorylation.

British Journal Of Pharmacology
Yang, Tao T; Kanki, Hideaki H; Zhang, Wei W; Roden, Dan M DM
Publication Date: 2009-07

Variant appearance in text: KCNQ1: S468D
PubMed Link: 19522859
Variant Present in the following documents:
  • Main text
View BVdb publication page