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.S382R

c.1146T>G

Surrounding Variants

1 paper

NM_000749.5

p.S382R

c.1146T>A

1 paper

NM_000749.5

p.S382R

c.1144A>C

1 paper

NM_000749.5

p.L381H

c.1142T>A

1 paper

NM_000749.5

p.G384insFs

c.1151_1152ins4

1 paper

NM_000749.5

p.Q378K

c.1132C>A

1 paper

NM_000749.5

p.V389A

c.1166T>C

1 paper

NM_000749.5

p.K375R

c.1124A>G

1 paper

NM_000749.5

p.E374K

c.1120G>A

1 paper

NM_000749.5

p.E374fs

c.1120_1121fs

1 paper

NM_000749.5

p.V368E

c.1103T>A

3 papers

NM_000749.5

p.V368M

c.1102G>A

1 paper

NM_000749.5

p.R400T

c.1199G>C