KCNH2 c.1958C>T ;(p.A653V)

Variant ID: 7-150648196-G-A

NM_000238.3(KCNH2):c.1958C>T;(p.A653V)

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: A653V
PubMed Link: 19406877
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly conserved alanine in the S6 domain of the hERG1 K+ channel is required for normal gating.

Cellular Physiology And Biochemistry : International Journal Of Experimental Cellular Physiology, Biochemistry, And Pharmacology
Brown, Scott S; Sonntag, David P DP; Sanguinetti, Michael C MC
Publication Date: 2008

Variant appearance in text: KCNH2: A653V
PubMed Link: 19088442
Variant Present in the following documents:
  • Main text
View BVdb publication page