Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.D196N

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.D196N
c.586G>A
Surrounding Variants
1 paper
NM_000748.3
p.W203_V206delFs
c.607_616del10
1 paper
NM_000748.3
p.A207V
c.620C>T
1 paper
NM_000748.3
p.Y178*
c.534C>A
1 paper
NM_000748.3
p.Y178*
c.534C>G
1 paper
NM_000748.3
p.E214Q
c.640G>C
1 paper
NM_000748.3
p.T177S
c.529A>T
1 paper
NM_000748.3
p.S175S
c.525G>A
1 paper
NM_000748.3
p.R174C
c.520C>T
1 paper
NM_000748.3
p.R174fs
c.520_521fs
1 paper
NM_000748.3
p.R174_W176Fs
c.520_527delinsTGCTACFs
1 paper
NM_000748.3
p.D218D
c.654C>T
1 paper
NM_000748.3
p.K172R
c.515A>G
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