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SCN5A c.2542_2544delinsGAG ;(p.I848E)
Variant ID: 3-38627425-GAT-CTC
NM_000335.4(
SCN5A
):c.2542_2544delinsGAG;(p.I848E)
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:
Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.
The Journal Of Biological Chemistry
Kerth, Clara M CM; Hautvast, Petra P; Körner, Jannis J; Lampert, Angelika A; Meents, Jannis E JE
Publication Date: 2021
Variant appearance in text: Nav1.5: I848E
PubMed Link:
33361158
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page