KCNH2 c.2054G>C ;(p.R685P)

Variant ID: 7-150648100-C-G

NM_000238.3(KCNH2):c.2054G>C;(p.R685P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


SGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome.

Heart Rhythm O2
Kim, Maengjo M; Das, Saumya S; Tester, David J DJ; Pradhananga, Sabindra S; Hamrick, Samantha K SK; Gao, Xiaozhi X; Srinivasan, Dinesh D; Sager, Philip T PT; Ackerman, Michael J MJ
Publication Date: 2023-04

Variant appearance in text: LQT2: R685P
PubMed Link: 37124559
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.

Cell Reports Methods
Blanch-Asensio, Albert A; Grandela, Catarina C; Brandão, Karina O KO; de Korte, Tessa T; Mei, Hailiang H; Ariyurek, Yavuz Y; Yiangou, Loukia L; Mol, Mervyn P H MPH; van Meer, Berend J BJ; Kloet, Susan L SL; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2022-10-24

Variant appearance in text: LQT2: R685P
PubMed Link: 36313798
Variant Present in the following documents:
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.

Journal Of Arrhythmia
El Harchi, Aziza A; Brincourt, Oriane O
Publication Date: 2022-08

Variant appearance in text: Kv11.1: R685P
PubMed Link: 35936037
Variant Present in the following documents:
  • JOA3-38-554.pdf
View BVdb publication page



Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: LQT2: R685P
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



What Is the Potential for Lumacaftor as a Chemical Chaperone in Promoting hERG Trafficking?

Frontiers In Cardiovascular Medicine
Zheng, Zequn Z; Song, Yongfei Y; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: KCNH2: R685P
PubMed Link: 35282377
Variant Present in the following documents:
  • Main text
  • fcvm-09-801927.pdf
View BVdb publication page



Long QT syndrome - Bench to bedside.

Heart Rhythm O2
Ponce-Balbuena, Daniela D; Deschênes, Isabelle I
Publication Date: 2021-02

Variant appearance in text: KCNH2: R685P
PubMed Link: 34113909
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Precision Medicine and cardiac channelopathies: when dreams meet reality.

European Heart Journal
Gnecchi, Massimiliano M; Sala, Luca L; Schwartz, Peter J PJ
Publication Date: 2021-05-01

Variant appearance in text: Kv11.1: R685P
PubMed Link: 33686390
Variant Present in the following documents:
  • ehab007.pdf
View BVdb publication page