KCNH2 c.1901C>G ;(p.T634S)

Variant ID: 7-150648580-G-C

NM_000238.3(KCNH2):c.1901C>G;(p.T634S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: T634S
PubMed Link: 35282377
Variant Present in the following documents:
  • Main text
  • fcvm-09-801927.pdf
View BVdb publication page



Serine mutation of a conserved threonine in the hERG K+ channel S6-pore region leads to loss-of-function through trafficking impairment.

Biochemical And Biophysical Research Communications
Al-Moubarak, Ehab E; Zhang, Yihong Y; Dempsey, Christopher E CE; Zhang, Henggui H; Harmer, Stephen C SC; Hancox, Jules C JC
Publication Date: 2020-06-11

Variant appearance in text: LQT2: 1901C>G
PubMed Link: 32321643
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page