Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B
Variant:p.F52L

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.F52L
c.156C>A
Surrounding Variants
1 paper
NM_004588.5
p.F52L
c.156C>G
1 paper
NM_004588.5
p.F52L
c.154T>C
1 paper
NM_004588.5
p.C50Y
c.149G>A
1 paper
NM_004588.5
p.L48V
c.142C>G
3 papers
NM_004588.5
p.R47H
c.140G>A
1 paper
NM_004588.5
p.V58M
c.172G>A
3 papers
NM_004588.5
p.Y69H
c.205T>C
1 paper
NM_004588.5
p.A36T
c.106G>A
1 paper
NM_004588.5
p.P35S
c.103C>T
1 paper
NM_004588.5
p.C72R
c.214T>C
1 paper
NM_004588.5
p.E31D
c.93G>T
1 paper
NM_004588.5
p.E31D
c.93G>C
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