Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.S579R

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.S579R
c.1735A>C
Surrounding Variants
1 paper
NM_006922.4
p.S579R
c.1737T>G
1 paper
NM_006922.4
p.S579R
c.1737T>A
1 paper
NM_006922.4
p.T575I
c.1724C>T
1 paper
NM_006922.4
p.R583W
c.1747C>T
1 paper
NM_006922.4
p.V587A
c.1760T>C
2 papers
NM_006922.4
p.R563H
c.1688G>A
1 paper
NM_006922.4
p.R563C
c.1687C>T
1 paper
NM_006922.4
p.L559L
c.1677C>A
1 paper
NM_006922.4
p.E605Q
c.1813G>C
1 paper
NM_006922.4
p.S606G
c.1816A>G
1 paper
NM_006922.4
p.S606T
c.1817G>C
1 paper
NM_006922.4
p.D609Y
c.1825G>T
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