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.P286S

c.856C>T

Surrounding Variants

1 paper

NM_000750.5

p.L280L

c.840C>T

1 paper

NM_000750.5

p.L279Q

c.836T>A

1 paper

NM_000750.5

p.P293S

c.877C>T

2 papers

NM_000750.5

p.G296S

c.886G>A

1 paper

NM_000750.5

p.M300L

c.898A>T

1 paper

NM_000750.5

p.M300L

c.898A>C

1 paper

NM_000750.5

p.T265I

c.794C>T

2 papers

NM_000750.5

p.V311I

c.931G>A

1 paper

NM_000750.5

p.D259E

c.777C>G

1 paper

NM_000750.5

p.D259E

c.777C>A

1 paper

NM_000750.5

p.S258P

c.772T>C

1 paper

NM_000750.5

p.P257S

c.769C>T