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.S6delFs

c.16delT

Surrounding Variants

1 paper

NM_000745.4

p.G5G

c.15G>A

1 paper

NM_000745.4

p.G5R

c.13G>C

1 paper

NM_000745.4

p.A2T

c.4G>A

1 paper

NM_000745.4

p.M1I

c.3G>A

1 paper

NM_000745.4

p.A10delFs

c.29delC

1 paper

NM_000745.4

p.A21T

c.61G>A

2 papers

NM_000745.4

p.L26V

c.76C>G

1 paper

NM_000745.4

p.L26P

c.77T>C

1 paper

NM_000745.4

p.A29V

c.86C>T

1 paper

NM_000745.4

p.G31G

c.93C>T