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.D444Y

c.1330G>T

Surrounding Variants

5 papers

NM_000750.5

p.A435V

c.1304C>T

2 papers

NM_000750.5

p.A435T

c.1303G>A

1 paper

NM_000750.5

p.R421*

c.1261C>T

1 paper

NM_000750.5

p.S417F

c.1250C>T

1 paper

NM_000750.5

p.N391S

c.1172A>G

1 paper

NM_000750.5

p.S378G

c.1132A>G

7 papers

NM_000750.5

p.T375I

c.1124C>T

1 paper

NM_000750.5

p.P356P

c.1068G>A

1 paper

NM_000750.5

p.F346_S354del9

c.1036_1061del27

7 papers

NM_000750.5

p.R349C

c.1045C>T

2 papers

NM_000750.5

p.H339Q

c.1017C>G

2 papers

NM_000750.5

p.H339Q

c.1017C>A