Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B
Variant:p.S18N

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.S18N
c.53G>A
Surrounding Variants
1 paper
NM_004588.5
p.L19I
c.55C>A
1 paper
NM_004588.5
p.G16R
c.46G>C
1 paper
NM_004588.5
p.G16R
c.46G>A
1 paper
NM_004588.5
p.F12L
c.36C>G
1 paper
NM_004588.5
p.A11V
c.32C>T
1 paper
NM_004588.5
p.A11G
c.32C>G
1 paper
NM_004588.5
p.A11T
c.31G>A
1 paper
NM_004588.5
p.R9R
c.27C>T
1 paper
NM_004588.5
p.M1_W6del0
c.1_18del18
1 paper
NM_004588.5
p.A5insFs
c.14_15insC
1 paper
NM_004588.5
p.D4_A5insFs
c.12_13insTC
1 paper
NM_004588.5
p.D4V
c.11A>T
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