KCNH2 c.1684_1686delinsTGG ;(p.H562W)

Variant ID: 7-150648795-GTG-CCA

NM_000238.3(KCNH2):c.1684_1686delinsTGG;(p.H562W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.

The Journal Of Biological Chemistry
Perry, Matthew D MD; Ng, Chai Ann CA; Vandenberg, Jamie I JI
Publication Date: 2013-04-19

Variant appearance in text: Kv11.1: H562W
PubMed Link: 23471968
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interactions of H562 in the S5 helix with T618 and S621 in the pore helix are important determinants of hERG1 potassium channel structure and function.

Biophysical Journal
Lees-Miller, James P JP; Subbotina, Julia O JO; Guo, Jiqing J; Yarov-Yarovoy, Vladimir V; Noskov, Sergei Y SY; Duff, Henry J HJ
Publication Date: 2009-05-06

Variant appearance in text: HERG: H562W
PubMed Link: 19413965
Variant Present in the following documents:
  • Main text
View BVdb publication page