Varaico: Literature-Extracted Genetic Variants

Gene:SCN3B
Variant:p.S123S

SCN3B

147 papers

RefSeq Summary

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagati...

Pfam Domains

V-setaa 28–143UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

sodium voltage-gated channel beta subunit 3

HGNC Alias Symbols

HSA243396; SCNB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001040151.2
p.S123S
c.369C>T
Surrounding Variants
1 paper
NM_001040151.2
p.Y118Y
c.354C>T
11 papers
NM_001040151.2
p.A130V
c.389C>T
1 paper
NM_001040151.2
p.A130A
c.390G>A
1 paper
NM_001040151.2
p.G116A
c.347G>C
1 paper
NM_001040151.2
p.S115delFs
c.344_345delAG
2 papers
NM_001040151.2
p.R132W
c.394C>T
1 paper
NM_001040151.2
p.P133T
c.397C>A
1 paper
NM_001040151.2
p.N113N
c.339C>T
23 papers
NM_001040151.2
p.V110I
c.328G>A
2 papers
NM_001040151.2
p.T137M
c.410C>T
1 paper
NM_001040151.2
p.N109S
c.326A>G
1 paper
NM_001040151.2
p.L108L
c.324C>A
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