KCNQ1 c.1106C>G ;(p.P369R)

Variant ID: 11-2606515-C-G

NM_000218.2(KCNQ1):c.1106C>G;(p.P369R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.

International Journal Of Molecular Sciences
Bauer, Christiane K CK; Holling, Tess T; Horn, Denise D; Laço, Mário Nôro MN; Abdalla, Ebtesam E; Omar, Omneya Magdy OM; Alawi, Malik M; Kutsche, Kerstin K
Publication Date: 2022-08-26

Variant appearance in text: KCNQ1: P369R
PubMed Link: 36077086
Variant Present in the following documents:
  • ijms-23-09690.pdf
View BVdb publication page



Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: P369R
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798.pdf
View BVdb publication page



Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances
Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J
Publication Date: 2020-12

Variant appearance in text: KCNQ1: P369R
PubMed Link: 33310856
Variant Present in the following documents:
  • abd6798.pdf
View BVdb publication page