KCNH2 c.1496T>C ;(p.L499P)

Variant ID: 7-150649574-A-G

NM_000238.3(KCNH2):c.1496T>C;(p.L499P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Action potential clamp and pharmacology of the variant 1 Short QT Syndrome T618I hERG K⁺ channel.

Plos One
El Harchi, Aziza A; Melgari, Dario D; Zhang, Yi Hong YH; Zhang, Henggui H; Hancox, Jules C JC
Publication Date: 2012

Variant appearance in text: KCNH2: L499P
PubMed Link: 23300672
Variant Present in the following documents:
  • Main text
  • pone.0052451.pdf
View BVdb publication page



The hERG K(+) channel S4 domain L532P mutation: characterization at 37°C.

Biochimica Et Biophysica Acta
Zhang, Yi H YH; Colenso, Charlotte K CK; Sessions, Richard B RB; Dempsey, Christopher E CE; Hancox, Jules C JC
Publication Date: 2011-10

Variant appearance in text: LQT2: L499P
PubMed Link: 21777565
Variant Present in the following documents:
  • Main text
View BVdb publication page