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SCN5A c.1070C>G ;(p.S357C)
Variant ID: 3-38648230-G-C
NM_000335.4(
SCN5A
):c.1070C>G;(p.S357C)
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:
Atomistic Modeling of Ion Conduction through the Voltage-Sensing Domain of the Shaker K+ Ion Channel.
The Journal Of Physical Chemistry. B
Wood, Mona L ML; Freites, J Alfredo JA; Tombola, Francesco F; Tobias, Douglas J DJ
Publication Date: 2017-04-20
Variant appearance in text: Nav1.5: S357C
PubMed Link:
28074656
Variant Present in the following documents:
Main text
View BVdb publication page
Biophysics, pathophysiology, and pharmacology of ion channel gating pores.
Frontiers In Pharmacology
Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Chahine, Mohamed M
Publication Date: 2014
Variant appearance in text: SCN5A: S357C
PubMed Link:
24772081
Variant Present in the following documents:
Main text
fphar-05-00053.pdf
View BVdb publication page