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.R231S

c.691C>A

Surrounding Variants

1 paper

NM_000749.5

p.R231C

c.691C>T

1 paper

NM_000749.5

p.R231H

c.692G>A

1 paper

NM_000749.5

p.V228I

c.682G>A

1 paper

NM_000749.5

p.V228F

c.682G>T

1 paper

NM_000749.5

p.Y225C

c.674A>G

1 paper

NM_000749.5

p.T237_L238delFs

c.711_714del4

1 paper

NM_000749.5

p.T237I

c.710C>T

1 paper

NM_000749.5

p.F222I

c.664T>A

1 paper

NM_000749.5

p.I242T

c.725T>C

1 paper

NM_000749.5

p.C244*

c.732C>A

1 paper

NM_000749.5

p.D215D

c.645C>T

1 paper

NM_000749.5

p.G246G

c.738G>A