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SCN5A c.5308_5309delinsTG ;(p.I1770C)
Variant ID: 3-38592551-AT-CA
NM_000335.4(
SCN5A
):c.5308_5309delinsTG;(p.I1770C)
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:
Editorial: Recent Advances in Voltage-Gated Sodium Channels, their Pharmacology and Related Diseases.
Frontiers In Pharmacology
Chahine, Mohamed M; Desaphy, Jean-François JF
Publication Date: 2016
Variant appearance in text: Nav1.5: I1770C
PubMed Link:
26903866
Variant Present in the following documents:
Main text
fphar-07-00020.pdf
View BVdb publication page
MTSET modification of D4S6 cysteines stabilize the fast inactivated state of Nav1.5 sodium channels.
Frontiers In Pharmacology
O'Leary, Michael E ME; Chahine, Mohamed M
Publication Date: 2015
Variant appearance in text: Nav1.5: I1770C
PubMed Link:
26150789
Variant Present in the following documents:
Main text
fphar-06-00118.pdf
View BVdb publication page