Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B

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
1–12 of 86 variants
14 papers
NM_004588.5
p.R28W
c.82C>T
12 papers
NM_004588.5
p.D211G
c.632A>G
8 papers
NM_004588.5
p.R28Q
c.83G>A
4 papers
NM_004588.5
p.D109N
c.325G>A
3 papers
NM_004588.5
p.R47H
c.140G>A
3 papers
NM_004588.5
p.Y69H
c.205T>C
3 papers
NM_004588.5
p.M79_F80Splc
c.237+27A>G
3 papers
NM_004588.5
p.V99M
c.295G>A
3 papers
NM_004588.5
p.S111L
c.332C>T
3 papers
NM_004588.5
p.E150Splc
c.449-12C>A
2 papers
NM_004588.5
p.S18N
c.53G>A
2 papers
NM_004588.5
p.R84C
c.250C>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."