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KCNH2 c.2185T>A ;(p.C729S)
Variant ID: 7-150647469-A-T
NM_000238.3(
KCNH2
):c.2185T>A;(p.C729S)
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:
Cysteine 723 in the C-linker segment confers oxidative inhibition of hERG1 potassium channels.
The Journal Of Physiology
Kolbe, Katrin K; Schönherr, Roland R; Gessner, Guido G; Sahoo, Nirakar N; Hoshi, Toshinori T; Heinemann, Stefan H SH
Publication Date: 2010-08-15
Variant appearance in text: KCNH2: C729S
PubMed Link:
20547678
Variant Present in the following documents:
Main text
View BVdb publication page