Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.K233R

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.K233R
c.698A>G
Surrounding Variants
1 paper
NM_000748.3
p.R232C
c.694C>T
1 paper
NM_000748.3
p.R231C
c.691C>T
1 paper
NM_000748.3
p.T225P
c.673A>C
1 paper
NM_000748.3
p.T225S
c.673A>T
1 paper
NM_000748.3
p.P244L
c.731C>T
1 paper
NM_000748.3
p.D218D
c.654C>T
1 paper
NM_000748.3
p.E214Q
c.640G>C
1 paper
NM_000748.3
p.P259ins1
c.776_777insGCT
1 paper
NM_000748.3
p.A207V
c.620C>T
1 paper
NM_000748.3
p.C262Y
c.785G>A
1 paper
NM_000748.3
p.W203_V206delFs
c.607_616del10
1 paper
NM_000748.3
p.T267M
c.800C>T
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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."