Varaico: Literature-Extracted Genetic Variants

Gene:SCN3B
Variant:p.S196C

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.S196C
c.587C>G
Surrounding Variants
4 papers
NM_001040151.2
p.A195T
c.583G>A
1 paper
NM_001040151.2
p.V211I
c.631G>A
1 paper
NM_001040151.2
p.A195Splc
c.584+1G>C
1 paper
NM_001040151.2
p.A195Splc
c.584+1G>A
2 papers
NM_001040151.2
p.A195T
c.583G>A
2 papers
NM_001040151.2
p.N194N
c.582C>T
1 paper
NM_001040151.2
p.A191T
c.571G>A
1 paper
NM_001040151.2
p.A190T
c.568G>A
1 paper
NM_001040151.2
p.E188K
c.562G>A
1 paper
NM_001040151.2
p.E176K
c.526G>A
1 paper
NM_001040151.2
p.W172*
c.516G>A
2 papers
NM_001040151.2
p.W172*
c.515G>A
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