Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.R378*

SCN3A

360 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible fo...

Gene Aliases

HGNC Name

sodium voltage-gated channel alpha subunit 3

HGNC Alias Symbol

Nav1.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006922.4
p.R378*
c.1132C>T
Surrounding Variants
2 papers
NM_006922.4
p.Y384S
c.1151A>C
1 paper
NM_006922.4
p.E386D
c.1158A>T
1 paper
NM_006922.4
p.L388F
c.1162C>T
1 paper
NM_006922.4
p.Y363*
c.1089C>G
1 paper
NM_006922.4
p.Y363*
c.1089C>A
1 paper
NM_006922.4
p.L391_T392Splc
c.1173+5G>A
1 paper
NM_006922.4
p.R357R
c.1071A>T
7 papers
NM_006922.4
p.R357Q
c.1070G>A
1 paper
NM_006922.4
p.A355T
c.1063G>A
22 papers
NM_006922.4
p.K354Q
c.1060A>C
1 paper
NM_006922.4
p.V353V
c.1059G>A
1 paper
NM_006922.4
p.G344Splc
c.1032-3T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."