Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2

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
1–12 of 130 variants
45 papers
NM_000748.3
p.V287L
c.859G>C
45 papers
NM_000748.3
p.V287L
c.859G>T
36 papers
NM_000748.3
p.V287M
c.859G>A
21 papers
NM_000748.3
p.I312M
c.936C>G
11 papers
NM_000748.3
p.V308A
c.923T>C
10 papers
NM_000748.3
p.L301V
c.901C>G
9 papers
NM_000748.3
p.V337G
c.1010T>G
6 papers
NM_000748.3
p.R460G
c.1378C>G
3 papers
NM_000748.3
p.L282R
c.845T>G
3 papers
NM_000748.3
p.Q397H
c.1191G>C
3 papers
NM_000748.3
p.Q397H
c.1191G>T
3 papers
NM_000748.3
p.V469V
c.1407C>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."