KCNQ1 c.1581G>C ;(p.K527N)

Variant ID: 11-2790140-G-C

NM_000218.2(KCNQ1):c.1581G>C;(p.K527N)

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: K527N
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
  • 42003_2021_2909_MOESM1_ESM.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: K527N
PubMed Link: 34907346
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2909.pdf
  • 42003_2021_2909_MOESM1_ESM.pdf
View BVdb publication page



Competition of calcified calmodulin N lobe and PIP2 to an LQT mutation site in Kv7.1 channel.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tobelaim, William Sam WS; Dvir, Meidan M; Lebel, Guy G; Cui, Meng M; Buki, Tal T; Peretz, Asher A; Marom, Milit M; Haitin, Yoni Y; Logothetis, Diomedes E DE; Hirsch, Joel Alan JA; Attali, Bernard B
Publication Date: 2017-01-31

Variant appearance in text: Kv7.1: K527N
PubMed Link: 28096388
Variant Present in the following documents:
  • Main text
View BVdb publication page