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KCNH2 c.1780G>T ;(p.G594C)
Variant ID: 7-150648701-C-A
NM_000238.3(
KCNH2
):c.1780G>T;(p.G594C)
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:
Probing the outer mouth structure of the HERG channel with peptide toxin footprinting and molecular modeling.
Biophysical Journal
Tseng, Gea-Ny GN; Sonawane, Kailas D KD; Korolkova, Yuliya V YV; Zhang, Mei M; Liu, Jie J; Grishin, Eugene V EV; Guy, H Robert HR
Publication Date: 2007-05-15
Variant appearance in text: HERG: G594C
PubMed Link:
17293393
Variant Present in the following documents:
Main text
View BVdb publication page
Structural and functional role of the extracellular s5-p linker in the HERG potassium channel.
The Journal Of General Physiology
Liu, Jie J; Zhang, Mei M; Jiang, Min M; Tseng, Gea-Ny GN
Publication Date: 2002-11
Variant appearance in text: HERG: G594C
PubMed Link:
12407082
Variant Present in the following documents:
Main text
20028687.pdf
View BVdb publication page