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

1–12 of 102 variants

11 papers

NM_000750.5

p.T91I

c.272C>T

7 papers

NM_000750.5

p.S140G

c.418A>G

7 papers

NM_000750.5

p.R349C

c.1045C>T

7 papers

NM_000750.5

p.T375I

c.1124C>T

6 papers

NM_000750.5

p.N41S

c.122A>G

5 papers

NM_000750.5

p.A435V

c.1304C>T

4 papers

NM_000750.5

p.R136Q

c.407G>A

4 papers

NM_000750.5

p.M467V

c.1399A>G

3 papers

NM_000750.5

p.R136W

c.406C>T

2 papers

NM_000750.5

p.K57E

c.169A>G

2 papers

NM_000750.5

p.G296S

c.886G>A

2 papers

NM_000750.5

p.V311I

c.931G>A