KCNH2 c.1954_1955delinsAC ;(p.Y652T)

Variant ID: 7-150648199-TA-GT

NM_000238.3(KCNH2):c.1954_1955delinsAC;(p.Y652T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.

American Journal Of Physiology. Cell Physiology
Smith, Jennifer L JL; Reloj, Allison R AR; Nataraj, Parvathi S PS; Bartos, Daniel C DC; Schroder, Elizabeth A EA; Moss, Arthur J AJ; Ohno, Seiko S; Horie, Minoru M; Anderson, Corey L CL; January, Craig T CT; Delisle, Brian P BP
Publication Date: 2013-11-01

Variant appearance in text: Kv11.1: Y652T
PubMed Link: 23864605
Variant Present in the following documents:
  • Main text
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