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.S276*

c.827C>A

Surrounding Variants

1 paper

NM_000745.4

p.S276*

c.827C>G

1 paper

NM_000745.4

p.P275_S276insFs

c.825_826ins5

1 paper

NM_000745.4

p.K281M

c.842A>T

1 paper

NM_000745.4

p.C285S

c.853T>A

1 paper

NM_000745.4

p.C285S

c.854G>C

1 paper

NM_000745.4

p.F266I

c.796T>A

1 paper

NM_000745.4

p.P250L

c.749C>T

2 papers

NM_000745.4

p.P250T

c.748C>A

1 paper

NM_000745.4

p.L249M

c.745C>A

1 paper

NM_000745.4

p.P238L

c.713C>T

2 papers

NM_000745.4

p.L317V

c.949C>G

1 paper

NM_000745.4

p.M321V

c.961A>G