Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B
Variant:p.C182S

SCN2B

98 papers

RefSeq Summary

The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can b...

Pfam Domains

V-setaa 33–147UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

sodium voltage-gated channel beta subunit 2

HGNC Previous Names

sodium channel, voltage-gated, type II, beta polypeptide; sodium channel, voltage-gated, type II, beta; sodium channel, voltage-gated, type II, beta subunit; sodium channel, voltage gated, type II beta subunit

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004588.5
p.C182S
c.544T>A
Surrounding Variants
1 paper
NM_004588.5
p.C182S
c.545G>C
1 paper
NM_004588.5
p.V179V
c.537G>A
1 paper
NM_004588.5
p.V176L
c.526G>T
1 paper
NM_004588.5
p.V176L
c.526G>C
1 paper
NM_004588.5
p.I174M
c.522C>G
1 paper
NM_004588.5
p.V173I
c.517G>A
1 paper
NM_004588.5
p.G168C
c.502G>T
1 paper
NM_004588.5
p.G167R
c.499G>C
1 paper
NM_004588.5
p.G167R
c.499G>A
1 paper
NM_004588.5
p.V162G
c.485T>G
1 paper
NM_004588.5
p.T204M
c.611C>T
1 paper
NM_004588.5
p.S156F
c.467C>T
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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."