Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.T290S

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.T290S
c.868A>T
Surrounding Variants
1 paper
NM_000748.3
p.T290S
c.869C>G
1 paper
NM_000748.3
p.P289_T290insFs
c.867_868ins5
1 paper
NM_000748.3
p.L292F
c.874C>T
1 paper
NM_000748.3
p.L292L
c.876C>T
36 papers
NM_000748.3
p.V287M
c.859G>A
45 papers
NM_000748.3
p.V287L
c.859G>C
45 papers
NM_000748.3
p.V287L
c.859G>T
3 papers
NM_000748.3
p.L282R
c.845T>G
10 papers
NM_000748.3
p.L301V
c.901C>G
1 paper
NM_000748.3
p.L301F
c.901C>T
1 paper
NM_000748.3
p.T304I
c.911C>T
11 papers
NM_000748.3
p.V308A
c.923T>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."