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

2 papers

NM_000750.5

p.H339Q

c.1017C>A

Surrounding Variants

2 papers

NM_000750.5

p.H339Q

c.1017C>G

7 papers

NM_000750.5

p.R349C

c.1045C>T

1 paper

NM_000750.5

p.F346_S354del9

c.1036_1061del27

1 paper

NM_000750.5

p.P324A

c.970C>G

1 paper

NM_000750.5

p.S323S

c.969G>A

1 paper

NM_000750.5

p.P356P

c.1068G>A

2 papers

NM_000750.5

p.V311I

c.931G>A

7 papers

NM_000750.5

p.T375I

c.1124C>T

1 paper

NM_000750.5

p.S378G

c.1132A>G

1 paper

NM_000750.5

p.M300L

c.898A>T

1 paper

NM_000750.5

p.M300L

c.898A>C

2 papers

NM_000750.5

p.G296S

c.886G>A