Varaico: Literature-Extracted Genetic Variants

CHRNB3

60 papers

RefSeq Summary

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are (hetero)pentamers composed of...

Pfam Domains

Neur_chan_LBDaa 29–233UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 240–446UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic beta 3 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, beta polypeptide 3; cholinergic receptor, nicotinic, beta 3 (neuronal); cholinergic receptor, nicotinic beta 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 140 variants

6 papers

NM_000749.5

p.A147T

c.439G>A

4 papers

NM_000749.5

p.H329Y

c.985C>T

4 papers

NM_000749.5

p.K451E

c.1351A>G

3 papers

NM_000749.5

p.V368M

c.1102G>A

2 papers

NM_000749.5

p.G13D

c.38G>A

2 papers

NM_000749.5

p.I25F

c.73A>T

2 papers

NM_000749.5

p.S248F

c.743C>T

2 papers

NM_000749.5

p.L250P

c.749T>C

2 papers

NM_000749.5

p.S326T

c.976T>A

2 papers

NM_000749.5

p.R355C

c.1063C>T

1 paper

NM_000749.5

p.L2F

c.4C>T

1 paper

NM_000749.5

p.L9R

c.26T>G