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SCN5A c.503A>T ;(p.Y168F)
Variant ID: 3-38662442-T-A
NM_000335.4(
SCN5A
):c.503A>T;(p.Y168F)
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:
Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.
Frontiers In Physiology
Amarouch, Mohamed-Yassine MY; Abriel, Hugues H
Publication Date: 2015
Variant appearance in text: SCN5A: Y168F
PubMed Link:
25741286
Variant Present in the following documents:
Main text
fphys-06-00045.pdf
View BVdb publication page
Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathies.
Channels (Austin, Tex.)
Amarouch, Mohamed-Yassine MY; Kasimova, Marina A MA; Tarek, Mounir M; Abriel, Hugues H
Publication Date: 2014
Variant appearance in text: Nav1.5: Y168F
PubMed Link:
25483584
Variant Present in the following documents:
Main text
kchl-08-05-958922.pdf
View BVdb publication page