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.N119K

c.357C>A

Surrounding Variants

1 paper

NM_000750.5

p.N119K

c.357C>G

1 paper

NM_000750.5

p.V116_Y118del0

c.346_354del9

1 paper

NM_000750.5

p.L117V

c.349C>G

1 paper

NM_000750.5

p.I110I

c.330C>A

1 paper

NM_000750.5

p.R109H

c.326G>A

1 paper

NM_000750.5

p.R104M

c.311G>T

1 paper

NM_000750.5

p.R96H

c.287G>A

11 papers

NM_000750.5

p.T91I

c.272C>T

1 paper

NM_000750.5

p.V68_N69Splc

c.205-47G>C

1 paper

NM_000750.5

p.T124A

c.370A>G

1 paper

NM_000750.5

p.T131I

c.392C>T

1 paper

NM_000750.5

p.V135I

c.403G>A