Varaico: Literature-Extracted Genetic Variants

Gene:SCN4B
Variant:p.M111L

SCN4B

133 papers

RefSeq Summary

The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane ...

Pfam Domains

V-setaa 37–151UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

sodium voltage-gated channel beta subunit 4

HGNC Alias Symbol

LQT10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_174934.4
p.M111L
c.331A>C
Surrounding Variants
1 paper
NM_174934.4
p.M111L
c.331A>T
2 papers
NM_174934.4
p.E109K
c.325G>A
1 paper
NM_174934.4
p.T107I
c.320C>T
1 paper
NM_174934.4
p.T107P
c.319A>C
1 paper
NM_174934.4
p.L121P
c.362T>C
1 paper
NM_174934.4
p.R100H
c.299G>A
1 paper
NM_174934.4
p.R100C
c.298C>T
1 paper
NM_174934.4
p.R100S
c.298C>A
1 paper
NM_174934.4
p.D98N
c.292G>A
1 paper
NM_174934.4
p.D125N
c.373G>A
1 paper
NM_174934.4
p.T130I
c.389C>T
1 paper
NM_174934.4
p.C131W
c.393C>G
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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."