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

Selected Variant

1 paper

NM_000749.5

p.L9R

c.26T>G

Surrounding Variants

1 paper

NM_000749.5

p.I10I

c.30C>T

1 paper

NM_000749.5

p.G13S

c.37G>A

2 papers

NM_000749.5

p.G13D

c.38G>A

1 paper

NM_000749.5

p.L2F

c.4C>T

1 paper

NM_000749.5

p.A18T

c.52G>A

1 paper

NM_000749.5

p.A18V

c.53C>T

1 paper

NM_000749.5

p.A18Splc

c.52+1G>A