Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.R360H

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.R360H
c.1079G>A
Surrounding Variants
2 papers
NM_000748.3
p.R366H
c.1097G>A
1 paper
NM_000748.3
p.R368C
c.1102C>T
1 paper
NM_000748.3
p.R368H
c.1103G>A
2 papers
NM_000748.3
p.Q351H
c.1053G>T
1 paper
NM_000748.3
p.Q350Q
c.1050G>A
1 paper
NM_000748.3
p.E371K
c.1111G>A
1 paper
NM_000748.3
p.M349T
c.1046T>C
1 paper
NM_000748.3
p.M349V
c.1045A>G
1 paper
NM_000748.3
p.A345G
c.1034C>G
1 paper
NM_000748.3
p.A375A
c.1125C>A
1 paper
NM_000748.3
p.R379R
c.1137C>T
9 papers
NM_000748.3
p.V337G
c.1010T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."