KCNH2 c.1621_1622delinsGC ;(p.R541A)

Variant ID: 7-150648859-CG-GC

NM_000238.3(KCNH2):c.1621_1622delinsGC;(p.R541A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Fast Component of hERG Gating Charge: An Interaction between D411 in the S1 and S4 Residues.

Biophysical Journal
Dou, Ying Y; Macdonald, Logan C LC; Wu, Yue Y; Fedida, David D
Publication Date: 2017-11-07

Variant appearance in text: Kv11.1: R541A
PubMed Link: 29117522
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tyrosine Residues from the S4-S5 Linker of Kv11.1 Channels Are Critical for Slow Deactivation.

The Journal Of Biological Chemistry
Ng, Chai-Ann CA; Gravel, Andrée E AE; Perry, Matthew D MD; Arnold, Alexandre A AA; Marcotte, Isabelle I; Vandenberg, Jamie I JI
Publication Date: 2016-08-12

Variant appearance in text: Kv11.1: R541A
PubMed Link: 27317659
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct interaction of eag domains and cyclic nucleotide-binding homology domains regulate deactivation gating in hERG channels.

The Journal Of General Physiology
Gianulis, Elena C EC; Liu, Qiangni Q; Trudeau, Matthew C MC
Publication Date: 2013-10

Variant appearance in text: HERG: R541A
PubMed Link: 24043860
Variant Present in the following documents:
  • JGP_201310995.pdf
View BVdb publication page



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: R541A
PubMed Link: 22359612
Variant Present in the following documents:
  • Main text
  • pone.0031640.pdf
View BVdb publication page



Thermodynamic and kinetic properties of amino-terminal and S4-S5 loop HERG channel mutants under steady-state conditions.

Biophysical Journal
Alonso-Ron, Carlos C; de la Peña, Pilar P; Miranda, Pablo P; Domínguez, Pedro P; Barros, Francisco F
Publication Date: 2008-05-15

Variant appearance in text: HERG: R541A
PubMed Link: 18222997
Variant Present in the following documents:
  • Main text
View BVdb publication page