Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.A150Splc

SCN1B

365 papers

RefSeq Summary

Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta su...

Pfam Domains

V-setaa 1–113UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

sodium voltage-gated channel beta subunit 1

HGNC Previous Names

sodium channel, voltage-gated, type I, beta polypeptide; sodium channel, voltage-gated, type I, beta; sodium channel, voltage-gated, type I, beta subunit; sodium channel, voltage gated, type I beta subunit

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037.5
p.A150Splc
c.448+8G>T
Surrounding Variants
1 paper
NM_001037.5
p.A150Splc
c.448+8G>C
1 paper
NM_199037.5
p.G153S
c.457G>A
1 paper
NM_199037.5
p.V160I
c.478G>A
1 paper
NM_001037.5
p.I144V
c.430A>G
1 paper
NM_001037.5
p.H143delFs
c.429delC
3 papers
NM_199037.5
p.H162P
c.485A>C
1 paper
NM_001037.5
p.H143Y
c.427C>T
1 paper
NM_001037.5
p.K141M
c.422A>T
12 papers
NM_001037.5
p.V138I
c.412G>A
1 paper
NM_001037.5
p.N135delFs
c.405delC
1 paper
NM_001037.5
p.N135fs
c.403_404fs
9 papers
NM_001037.5
p.F129L
c.387C>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."