Varaico: Literature-Extracted Genetic Variants

Gene:SCN3A
Variant:p.S1456*

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.S1456*
c.4367C>G
Surrounding Variants
1 paper
NM_006922.4
p.S1456*
c.4367C>A
1 paper
NM_006922.4
p.L1446S
c.4337T>C
4 papers
NM_006922.4
p.I1468R
c.4403T>G
1 paper
NM_006922.4
p.R1430Q
c.4289G>A
1 paper
NM_006922.4
p.D1428N
c.4282G>A
1 paper
NM_006922.4
p.K1477_F1478Splc
c.4432-1C>A
1 paper
NM_006922.4
p.T1486A
c.4456A>G
2 papers
NM_006922.4
p.T1486I
c.4457C>T
1 paper
NM_006922.4
p.Q1489fs
c.4465_4466fs
1 paper
NM_006922.4
p.Q1489K
c.4465C>A
1 paper
NM_006922.4
p.Q1489H
c.4467G>T
1 paper
NM_006922.4
p.Q1489H
c.4467G>C
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