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.L250P

c.749T>C

Surrounding Variants

1 paper

NM_000749.5

p.F249S

c.746T>C

2 papers

NM_000749.5

p.S248F

c.743C>T

1 paper

NM_000749.5

p.S248A

c.742T>G

1 paper

NM_000749.5

p.G246G

c.738G>A

1 paper

NM_000749.5

p.V254L

c.760G>C

1 paper

NM_000749.5

p.V254L

c.760G>T

1 paper

NM_000749.5

p.C244*

c.732C>A

1 paper

NM_000749.5

p.Y256S

c.767A>C

1 paper

NM_000749.5

p.I242T

c.725T>C

1 paper

NM_000749.5

p.E263K

c.787G>A

1 paper

NM_000749.5

p.T237I

c.710C>T

1 paper

NM_000749.5

p.T237_L238delFs

c.711_714del4