KCNQ1 c.692_693delinsAA ;(p.R231Q)

Variant ID: 11-2593251-GC-AA

NM_000218.2(KCNQ1):c.692_693delinsAA;(p.R231Q)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mechanistic insights into robust cardiac I Ks potassium channel activation by aromatic polyunsaturated fatty acid analogues.

Biorxiv : The Preprint Server For Biology
Bohannon, Briana M BM; Jowais, Jessica J JJ; Nyberg, Leif L; Liin, Sara I SI; Larsson, H Peter HP
Publication Date: 2023-01-15

Variant appearance in text: KCNQ1: R231Q
PubMed Link: 36711783
Variant Present in the following documents:
  • Main text
  • nihpp-2023.01.12.523777v1.pdf
View BVdb publication page



Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry
Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR
Publication Date: 2021

Variant appearance in text: KCNQ1: R231Q
PubMed Link: 33600800
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Polyunsaturated Fatty Acids as Modulators of KV7 Channels.

Frontiers In Physiology
Larsson, Johan E JE; Frampton, Damon J A DJA; Liin, Sara I SI
Publication Date: 2020

Variant appearance in text: KCNQ1: R231Q
PubMed Link: 32595524
Variant Present in the following documents:
  • fphys-11-00641.pdf
View BVdb publication page



Polyunsaturated fatty acids produce a range of activators for heterogeneous IKs channel dysfunction.

The Journal Of General Physiology
Bohannon, Briana M BM; Wu, Xiaoan X; Wu, Xiongyu X; Perez, Marta E ME; Liin, Sara I SI; Larsson, H Peter HP
Publication Date: 2020-02-03

Variant appearance in text: Kv7.1: R231Q
PubMed Link: 31865382
Variant Present in the following documents:
  • Main text
  • JGP_201912396.pdf
View BVdb publication page