KCNH2 c.277A>G ;(p.K93E)

Variant ID: 7-150671829-T-C

NM_000238.3(KCNH2):c.277A>G;(p.K93E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Clinical And Translational Medicine
Oliveira-Mendes, Barbara B; Feliciangeli, Sylvain S; Ménard, Mélissa M; Chatelain, Frank F; Alameh, Malak M; Montnach, Jérôme J; Nicolas, Sébastien S; Ollivier, Béatrice B; Barc, Julien J; Baró, Isabelle I; Schott, Jean-Jacques JJ; Probst, Vincent V; Kyndt, Florence F; Denjoy, Isabelle I; Lesage, Florian F; Loussouarn, Gildas G; De Waard, Michel M
Publication Date: 2021-11

Variant appearance in text: LQT2: 277A>G
PubMed Link: 34841674
Variant Present in the following documents:
  • Main text
  • CTM2-11-e609-s001.pdf
  • CTM2-11-e609.pdf
View BVdb publication page



Rac GTPase signaling through the PP5 protein phosphatase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Gentile, Saverio S; Darden, Thomas T; Erxleben, Christian C; Romeo, Charles C; Russo, Angela A; Martin, Negin N; Rossie, Sandra S; Armstrong, David L DL
Publication Date: 2006-03-28

Variant appearance in text: KCNH2: K93E
PubMed Link: 16549782
Variant Present in the following documents:
  • Main text
View BVdb publication page