KCNH2 c.1957G>T ;(p.A653S)

Variant ID: 7-150648197-C-A

NM_000238.3(KCNH2):c.1957G>T;(p.A653S)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: A653S
PubMed Link: 19406877
Variant Present in the following documents:
  • Main text
View BVdb publication page