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

2 papers

NM_000749.5

p.I25F

c.73A>T

Surrounding Variants

1 paper

NM_000749.5

p.E27K

c.79G>A

1 paper

NM_000749.5

p.A31T

c.91G>A

1 paper

NM_000749.5

p.A31D

c.92C>A

1 paper

NM_000749.5

p.G39S

c.115G>A

1 paper

NM_000749.5

p.W43*

c.128G>A

1 paper

NM_000749.5

p.W43*

c.129G>A

1 paper

NM_000749.5

p.W43C

c.129G>C

1 paper

NM_000749.5

p.W43C

c.129G>T

1 paper

NM_000749.5

p.V44F

c.130G>T

1 paper

NM_000749.5

p.R45H

c.134G>A

1 paper

NM_000749.5

p.H49Y

c.145C>T

1 paper

NM_000749.5

p.T53A

c.157A>G