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.A347T

c.1039G>A

Surrounding Variants

1 paper

NM_000745.4

p.N346K

c.1038T>A

1 paper

NM_000745.4

p.N346K

c.1038T>G

1 paper

NM_000745.4

p.R353H

c.1058G>A

1 paper

NM_000745.4

p.T359M

c.1076C>T

2 papers

NM_000745.4

p.A334T

c.1000G>A

6 papers

NM_000745.4

p.L363Q

c.1088T>A

1 paper

NM_000745.4

p.R367T

c.1100G>C

1 paper

NM_000745.4

p.S368G

c.1102A>G

1 paper

NM_000745.4

p.M321V

c.961A>G

1 paper

NM_000745.4

p.T375I

c.1124C>T

2 papers

NM_000745.4

p.L317V

c.949C>G

1 paper

NM_000745.4

p.E378*

c.1132G>T