Varaico: Literature-Extracted Genetic Variants

CHRNB4

101 papers

RefSeq Summary

This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central...

Pfam Domains

Neur_chan_LBDaa 27–232UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 239–478UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic beta 4 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, beta polypeptide 4; cholinergic receptor, nicotinic, beta 4 (neuronal); cholinergic receptor, nicotinic beta 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000750.5

p.M467V

c.1399A>G

Surrounding Variants

1 paper

NM_000750.5

p.F462Y

c.1385T>A

1 paper

NM_000750.5

p.F462V

c.1384T>G

1 paper

NM_000750.5

p.D459G

c.1376A>G

1 paper

NM_000750.5

p.G476R

c.1426G>C

1 paper

NM_000750.5

p.G476R

c.1426G>A

1 paper

NM_000750.5

p.L477I

c.1429C>A

2 papers

NM_000750.5

p.M456V

c.1366A>G

1 paper

NM_000750.5

p.P480P

c.1440G>A

1 paper

NM_000750.5

p.L482V

c.1444C>G

1 paper

NM_000750.5

p.D450G

c.1349A>G

1 paper

NM_000750.5

p.E490G

c.1469A>G

1 paper

NM_000750.5

p.R497C

c.1489C>T