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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.
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: 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