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

1 paper

NM_000750.5

p.R39C

c.115C>T

Surrounding Variants

1 paper

NM_000750.5

p.R39L

c.116G>T

6 papers

NM_000750.5

p.N41S

c.122A>G

1 paper

NM_000750.5

p.R45L

c.134G>T

1 paper

NM_000750.5

p.R45H

c.134G>A

1 paper

NM_000750.5

p.S49G

c.145A>G

1 paper

NM_000750.5

p.I54S

c.161T>G

1 paper

NM_000750.5

p.V23A

c.68T>C

1 paper

NM_000750.5

p.R22C

c.64C>T

2 papers

NM_000750.5

p.K57E

c.169A>G

1 paper

NM_000750.5

p.K57R

c.170A>G

1 paper

NM_000750.5

p.L58P

c.173T>C

1 paper

NM_000750.5

p.L60F

c.178C>T