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

Selected Variant

1 paper

NM_000745.4

p.R122H

c.365G>A

Surrounding Variants

1 paper

NM_000745.4

p.P131S

c.391C>T

8 papers

NM_000745.4

p.V134I

c.400G>A

1 paper

NM_000745.4

p.N138Splc

c.413+1G>A

2 papers

NM_000745.4

p.D105N

c.313G>A

1 paper

NM_000745.4

p.S147C

c.439A>T

1 paper

NM_000745.4

p.T148M

c.443C>T

1 paper

NM_000745.4

p.N155S

c.464A>G

4 papers

NM_000745.4

p.P163L

c.488C>T

1 paper

NM_000745.4

p.Y166C

c.497A>G

5 papers

NM_000745.4

p.K167R

c.500A>G

2 papers

NM_000745.4

p.F177I

c.529T>A

1 paper

NM_000745.4

p.S185_W191delFs

c.555_573del19