Varaico: Literature-Extracted Genetic Variants

CHRNA5

243 papers

RefSeq Summary

The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These recep...

Pfam Domains

Neur_chan_LBDaa 47–159UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–379UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 367–447UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 5 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 5; cholinergic receptor, nicotinic, alpha 5 (neuronal); cholinergic receptor, nicotinic alpha 5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 82 variants

164 papers

NM_000745.4

p.D398N

c.1192G>A

8 papers

NM_000745.4

p.V134I

c.400G>A

6 papers

NM_000745.4

p.L363Q

c.1088T>A

5 papers

NM_000745.4

p.K167R

c.500A>G

4 papers

NM_000745.4

p.P163L

c.488C>T

2 papers

NM_000745.4

p.L26V

c.76C>G

2 papers

NM_000745.4

p.F76V

c.226T>G

2 papers

NM_000745.4

p.D105N

c.313G>A

2 papers

NM_000745.4

p.F177I

c.529T>A

2 papers

NM_000745.4

p.P250T

c.748C>A

2 papers

NM_000745.4

p.L317V

c.949C>G

2 papers

NM_000745.4

p.A334T

c.1000G>A