KCNH2 c.1249_1250delinsGC ;(p.L417A)

Variant ID: 7-150649820-AG-GC

NM_000238.3(KCNH2):c.1249_1250delinsGC;(p.L417A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.

Molecular Pharmacology
Gardner, Alison A; Wu, Wei W; Thomson, Steven S; Zangerl-Plessl, Eva-Maria EM; Stary-Weinzinger, Anna A; Sanguinetti, Michael C MC
Publication Date: 2017-10

Variant appearance in text: KCNH2: L417A
PubMed Link: 28705808
Variant Present in the following documents:
  • Main text
View BVdb publication page



The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.

The Journal Of Biological Chemistry
Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD
Publication Date: 2017-05-05

Variant appearance in text: Kv11.1: L417A
PubMed Link: 28280240
Variant Present in the following documents:
  • Main text
View BVdb publication page