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.E219A

c.656A>C

Surrounding Variants

1 paper

NM_000745.4

p.W218fs

c.652_653fs

1 paper

NM_000745.4

p.E219delFs

c.655delG

1 paper

NM_000745.4

p.T231I

c.692C>T

1 paper

NM_000745.4

p.P238L

c.713C>T

1 paper

NM_000745.4

p.I200V

c.598A>G

1 paper

NM_000745.4

p.G195E

c.584G>A

1 paper

NM_000745.4

p.L249M

c.745C>A

2 papers

NM_000745.4

p.P250T

c.748C>A

1 paper

NM_000745.4

p.P250L

c.749C>T

1 paper

NM_000745.4

p.K187delFs

c.559delA

1 paper

NM_000745.4

p.K187_T192del0

c.559_576del18

1 paper

NM_000745.4

p.M186_F188del0

c.557_562del6