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KCNH2 c.1433C>G ;(p.A478G)
Variant ID: 7-150649637-G-C
NM_000238.3(
KCNH2
):c.1433C>G;(p.A478G)
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:
Position of aromatic residues in the S6 domain, not inactivation, dictates cisapride sensitivity of HERG and eag potassium channels.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Chen, Jun J; Seebohm, Guiscard G; Sanguinetti, Michael C MC
Publication Date: 2002-09-17
Variant appearance in text: HERG: A478G
PubMed Link:
12209010
Variant Present in the following documents:
Main text
View BVdb publication page