KCNQ1 c.1450_1451delinsGA ;(p.S484D)

Variant ID: 11-2683247-AG-GA

NM_000218.2(KCNQ1):c.1450_1451delinsGA;(p.S484D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calcium/calmodulin-dependent protein kinase II regulation of IKs during sustained β-adrenergic receptor stimulation.

Heart Rhythm
Shugg, Tyler T; Johnson, Derrick E DE; Shao, Minghai M; Lai, Xianyin X; Witzmann, Frank F; Cummins, Theodore R TR; Rubart-Von-der Lohe, Michael M; Hudmon, Andy A; Overholser, Brian R BR
Publication Date: 2018-06

Variant appearance in text: KCNQ1: S484D
PubMed Link: 29410121
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S484D
PubMed Link: 26405101
Variant Present in the following documents:
  • Main text
View BVdb publication page