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

4 papers

NM_000749.5

p.K451E

c.1351A>G

Surrounding Variants

1 paper

NM_000749.5

p.M452I

c.1356G>A

1 paper

NM_000749.5

p.M452I

c.1356G>C

1 paper

NM_000749.5

p.M452I

c.1356G>T

1 paper

NM_000749.5

p.H455N

c.1363C>A

1 paper

NM_000749.5

p.H455R

c.1364A>G

1 paper

NM_000749.5

p.H458fs

c.1372_1373fs

1 paper

NM_000749.5

p.H458insFs

c.1373_1374ins4

1 paper

NM_000749.5

p.*459fs

c.1375_1376fs

1 paper

NM_000749.5

p.S442W

c.1325C>G

1 paper

NM_000749.5

p.S442L

c.1325C>T

1 paper

NM_000749.5

p.S442A

c.1324T>G

1 paper

NM_000749.5

p.W432C

c.1296G>C