Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.V431L

CHRNB2

231 papers

RefSeq Summary

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow ...

Pfam Domains

Neur_chan_LBDaa 29–234UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 241–478UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic beta 2 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal); cholinergic receptor, nicotinic, beta 2 (neuronal); cholinergic receptor, nicotinic beta 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000748.3
p.V431L
c.1291G>T
Surrounding Variants
1 paper
NM_000748.3
p.V431L
c.1291G>C
1 paper
NM_000748.3
p.R432H
c.1295G>A
1 paper
NM_000748.3
p.A435T
c.1303G>A
1 paper
NM_000748.3
p.M438I
c.1314G>A
1 paper
NM_000748.3
p.M438I
c.1314G>C
1 paper
NM_000748.3
p.M438I
c.1314G>T
2 papers
NM_000748.3
p.R439W
c.1315C>T
1 paper
NM_000748.3
p.C420R
c.1258T>C
1 paper
NM_000748.3
p.E418*
c.1252G>T
1 paper
NM_000748.3
p.R415H
c.1244G>A
1 paper
NM_000748.3
p.S446_V447Splc
c.1338+1G>A
1 paper
NM_000748.3
p.V410A
c.1229T>C
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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."