KCNH2 c.1648_1649delinsGC ;(p.L550A)

Variant ID: 7-150648832-AG-GC

NM_000238.3(KCNH2):c.1648_1649delinsGC;(p.L550A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The S4-S5 linker acts as a signal integrator for HERG K+ channel activation and deactivation gating.

Plos One
Ng, Chai Ann CA; Perry, Matthew D MD; Tan, Peter S PS; Hill, Adam P AP; Kuchel, Philip W PW; Vandenberg, Jamie I JI
Publication Date: 2012

Variant appearance in text: HERG: L550A
PubMed Link: 22359612
Variant Present in the following documents:
  • Main text
  • pone.0031640.pdf
View BVdb publication page



Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.

Molecular Pharmacology
Grunnet, Morten M; Abbruzzese, Jennifer J; Sachse, Frank B FB; Sanguinetti, Michael C MC
Publication Date: 2011-01

Variant appearance in text: LQT2: L550A
PubMed Link: 20876384
Variant Present in the following documents:
  • Main text
View BVdb publication page