Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B
Variant:p.N209H

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
2 papers
NM_004588.5
p.N209H
c.625A>C
Surrounding Variants
2 papers
NM_004588.5
p.N209T
c.626A>C
2 papers
NM_004588.5
p.N209delins
c.625_626delinsCC
1 paper
NM_004588.5
p.P210Q
c.629C>A
1 paper
NM_004588.5
p.D211N
c.631G>A
12 papers
NM_004588.5
p.D211G
c.632A>G
1 paper
NM_004588.5
p.T204M
c.611C>T
1 paper
NM_004588.5
p.A214T
c.640G>A
1 paper
NM_004588.5
p.C182S
c.545G>C
1 paper
NM_004588.5
p.C182S
c.544T>A
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
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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."