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

3 papers

NM_000750.5

p.R136W

c.406C>T

Surrounding Variants

4 papers

NM_000750.5

p.R136Q

c.407G>A

1 paper

NM_000750.5

p.V135I

c.403G>A

1 paper

NM_000750.5

p.N138D

c.412A>G

7 papers

NM_000750.5

p.S140G

c.418A>G

1 paper

NM_000750.5

p.T131I

c.392C>T

1 paper

NM_000750.5

p.P145A

c.433C>G

1 paper

NM_000750.5

p.T124A

c.370A>G

1 paper

NM_000750.5

p.N166K

c.498C>G

1 paper

NM_000750.5

p.N166K

c.498C>A

1 paper

NM_000750.5

p.L185L

c.555C>T

1 paper

NM_000750.5

p.T187T

c.561G>A

1 paper

NM_000750.5

p.S191S

c.573C>T