KCNH2 c.1357G>T ;(p.A453S)

Variant ID: 7-150649713-C-A

NM_000238.3(KCNH2):c.1357G>T;(p.A453S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Molecular Dynamics-Derived Pharmacophore Model Explaining the Nonselective Aspect of KV10.1 Pore Blockers.

International Journal Of Molecular Sciences
Toplak, Žan Ž; Merzel, Franci F; Pardo, Luis A LA; Peterlin Mašič, Lucija L; Tomašič, Tihomir T
Publication Date: 2021-08-20

Variant appearance in text: HERG: A453S
PubMed Link: 34445705
Variant Present in the following documents:
  • ijms-22-08999.pdf
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: KCNH2: 1357G>T
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Jun J; Seebohm, Guiscard G; Sanguinetti, Michael C MC
Publication Date: 2002-09-17

Variant appearance in text: HERG: A453S
PubMed Link: 12209010
Variant Present in the following documents:
  • Main text
View BVdb publication page