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

2 papers

NM_000745.4

p.F76V

c.226T>G

Surrounding Variants

1 paper

NM_000745.4

p.A79E

c.236C>A

1 paper

NM_000745.4

p.K71E

c.211A>G

1 paper

NM_000745.4

p.D70D

c.210C>T

1 paper

NM_000745.4

p.S81F

c.242C>T

1 paper

NM_000745.4

p.V86_D87Splc

c.258+1G>A

1 paper

NM_000745.4

p.V65L

c.193G>C

1 paper

NM_000745.4

p.V65L

c.193G>T

1 paper

NM_000745.4

p.S49G

c.145A>G

1 paper

NM_000745.4

p.T94I

c.281C>T

1 paper

NM_000745.4

p.V97I

c.289G>A

2 papers

NM_000745.4

p.D105N

c.313G>A

1 paper

NM_000745.4

p.R122H

c.365G>A