KCNH2 c.1960A>T ;(p.S654C)

Variant ID: 7-150648194-T-A

NM_000238.3(KCNH2):c.1960A>T;(p.S654C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The evolutionarily conserved residue A653 plays a key role in HERG channel closing.

The Journal Of Physiology
Stepanovic, Svetlana Z SZ; Potet, Franck F; Petersen, Christina I CI; Smith, Jarrod A JA; Meiler, Jens J; Balser, Jeffrey R JR; Kupershmidt, Sabina S
Publication Date: 2009-06-01

Variant appearance in text: HERG: S654C
PubMed Link: 19406877
Variant Present in the following documents:
  • Main text
View BVdb publication page



hERG gating microdomains defined by S6 mutagenesis and molecular modeling.

The Journal Of General Physiology
Wynia-Smith, Sarah L SL; Gillian-Daniel, Anne Lynn AL; Satyshur, Kenneth A KA; Robertson, Gail A GA
Publication Date: 2008-11

Variant appearance in text: KCNH2: S654C
PubMed Link: 18955593
Variant Present in the following documents:
  • jgp1320507.pdf
View BVdb publication page