KCNH2 c.1630_1632delinsTGT ;(p.E544C)

Variant ID: 7-150648849-CTC-ACA

NM_000238.3(KCNH2):c.1630_1632delinsTGT;(p.E544C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular dynamics simulations suggest possible activation and deactivation pathways in the hERG channel.

Communications Biology
Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A
Publication Date: 2022-02-24

Variant appearance in text: HERG: E544C
PubMed Link: 35210539
Variant Present in the following documents:
  • 42003_2022_3074_MOESM1_ESM.pdf
View BVdb publication page



hERG S4-S5 linker acts as a voltage-dependent ligand that binds to the activation gate and locks it in a closed state.

Scientific Reports
Malak, Olfat A OA; Es-Salah-Lamoureux, Zeineb Z; Loussouarn, Gildas G
Publication Date: 2017-03-02

Variant appearance in text: KCNH2: E544C
PubMed Link: 28273916
Variant Present in the following documents:
  • 41598_2017_Article_155.pdf
  • 41598_2017_155_MOESM1_ESM.pdf
View BVdb publication page