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.H329R

c.986A>G

Surrounding Variants

4 papers

NM_000749.5

p.H329Y

c.985C>T

2 papers

NM_000749.5

p.S326T

c.976T>A

1 paper

NM_000749.5

p.S325F

c.974C>T

1 paper

NM_000749.5

p.R323K

c.968G>A

1 paper

NM_000749.5

p.V320I

c.958G>A

1 paper

NM_000749.5

p.V315A

c.944T>C

1 paper

NM_000749.5

p.V313F

c.937G>T

1 paper

NM_000749.5

p.C348F

c.1043G>T

1 paper

NM_000749.5

p.M304K

c.911T>A

2 papers

NM_000749.5

p.R355C

c.1063C>T

1 paper

NM_000749.5

p.I303V

c.907A>G

1 paper

NM_000749.5

p.L301V

c.901C>G