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.I184S

c.551T>G

Surrounding Variants

1 paper

NM_000749.5

p.N187S

c.560A>G

1 paper

NM_000749.5

p.E202D

c.606A>C

1 paper

NM_000749.5

p.E202D

c.606A>T

1 paper

NM_000749.5

p.I203M

c.609A>G

1 paper

NM_000749.5

p.R164*

c.490C>T

1 paper

NM_000749.5

p.F162L

c.486C>A

1 paper

NM_000749.5

p.F162L

c.486C>G

1 paper

NM_000749.5

p.A206S

c.616G>T

1 paper

NM_000749.5

p.F162L

c.484T>C

1 paper

NM_000749.5

p.T158R

c.473C>G

1 paper

NM_000749.5

p.G211R

c.631G>A

1 paper

NM_000749.5

p.G211R

c.631G>C