Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B
Variant:p.L147P

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.L147P
c.440T>C
Surrounding Variants
2 papers
NM_004588.5
p.V146V
c.438C>T
1 paper
NM_004588.5
p.E149A
c.446A>C
1 paper
NM_004588.5
p.H143delFs
c.429delA
1 paper
NM_004588.5
p.G140G
c.420C>T
1 paper
NM_004588.5
p.G140S
c.418G>A
1 paper
NM_004588.5
p.G138S
c.412G>A
1 paper
NM_004588.5
p.R137H
c.410G>A
2 papers
NM_004588.5
p.H136H
c.408C>T
1 paper
NM_004588.5
p.R135H
c.404G>A
1 paper
NM_004588.5
p.D134H
c.400G>C
1 paper
NM_004588.5
p.M130I
c.390G>A
1 paper
NM_004588.5
p.Y128F
c.383A>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."