KCNQ1 c.274_275inv ;(p.S92D)

Variant ID: 11-2466602-TC-GA

NM_000218.2(KCNQ1):c.274_275inv;(p.S92D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Single channel kinetic analysis of the cAMP effect on IKs mutants, S209F and S27D/S92D.

Channels (Austin, Tex.)
Thompson, Emely E; Eldstrom, Jodene J; Fedida, David D
Publication Date: 2018

Variant appearance in text: KCNQ1: S92D
PubMed Link: 30027808
Variant Present in the following documents:
  • kchl-12-01-1499369.pdf
View BVdb publication page



cAMP-dependent regulation of I single-channel kinetics.

The Journal Of General Physiology
Thompson, Emely E; Eldstrom, Jodene J; Westhoff, Maartje M; McAfee, Donald D; Balse, Elise E; Fedida, David D
Publication Date: 2017-08-07

Variant appearance in text: KCNQ1: S92D
PubMed Link: 28687606
Variant Present in the following documents:
  • JGP_201611734.pdf
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: S92D
PubMed Link: 26405101
Variant Present in the following documents:
  • Main text
View BVdb publication page