KCNQ1 c.1057_1058delinsTG ;(p.L353W)

Variant ID: 11-2606466-CT-TG

NM_000218.2(KCNQ1):c.1057_1058delinsTG;(p.L353W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: L353W
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
View BVdb publication page



Membrane pools of phosphatidylinositol-4-phosphate regulate KCNQ1/KCNE1 membrane expression.

Communications Biology
Braun, Chen C; Parks, Xiaorong Xu XX; Qudsi, Haani H; Lopes, Coeli M B CMB
Publication Date: 2021-12-14

Variant appearance in text: KCNQ1: L353W
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
View BVdb publication page



Role of the S6 C-terminus in KCNQ1 channel gating.

The Journal Of Physiology
Boulet, Inge R IR; Labro, Alain J AJ; Raes, Adam L AL; Snyders, Dirk J DJ
Publication Date: 2007-12-01

Variant appearance in text: KCNQ1: L353W
PubMed Link: 17932138
Variant Present in the following documents:
  • Main text
View BVdb publication page