Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.R393C

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.R393C
c.1177C>T
Surrounding Variants
2 papers
NM_000748.3
p.R393H
c.1178G>A
1 paper
NM_000748.3
p.A394T
c.1180G>A
1 paper
NM_000748.3
p.F390F
c.1170C>T
1 paper
NM_000748.3
p.C389S
c.1166G>C
2 papers
NM_000748.3
p.Q397P
c.1190A>C
3 papers
NM_000748.3
p.Q397H
c.1191G>C
3 papers
NM_000748.3
p.Q397H
c.1191G>T
1 paper
NM_000748.3
p.G398E
c.1193G>A
2 papers
NM_000748.3
p.A400A
c.1200C>G
1 paper
NM_000748.3
p.R379R
c.1137C>T
1 paper
NM_000748.3
p.A375A
c.1125C>A
1 paper
NM_000748.3
p.V410A
c.1229T>C
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."