Varaico: Literature-Extracted Genetic Variants

Gene:SCN4B
Variant:p.S205P

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
2 papers
NM_174934.4
p.S205P
c.613T>C
Surrounding Variants
1 paper
NM_174934.4
p.S205T
c.613T>A
15 papers
NM_174934.4
p.S206L
c.617C>T
1 paper
NM_174934.4
p.V203L
c.607G>T
1 paper
NM_174934.4
p.V203L
c.607G>C
1 paper
NM_174934.4
p.C201Y
c.602G>A
2 papers
NM_174934.4
p.N210H
c.628A>C
5 papers
NM_174934.4
p.T211R
c.632C>G
1 paper
NM_174934.4
p.E212K
c.634G>A
1 paper
NM_174934.4
p.N213fs
c.637_638fs
2 papers
NM_174934.4
p.N213insFs
c.638_639insGA
2 papers
NM_174934.4
p.N213N
c.639C>T
1 paper
NM_174934.4
p.L215F
c.645G>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."