Varaico: Literature-Extracted Genetic Variants

CHRNA3

148 papers

RefSeq Summary

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This loc...

Pfam Domains

Neur_chan_LBDaa 35–241UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 248–495UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 3 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 3; cholinergic receptor, nicotinic, alpha 3 (neuronal); cholinergic receptor, nicotinic alpha 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000743.5

p.A212D

c.635C>A

Surrounding Variants

2 papers

NM_000743.5

p.Y215H

c.643T>C

1 paper

NM_000743.5

p.I209M

c.627C>G

1 paper

NM_000743.5

p.I209I

c.627C>A

8 papers

NM_000743.5

p.Y215Y

c.645C>T

1 paper

NM_000743.5

p.K216N

c.648A>T

1 paper

NM_000743.5

p.K216N

c.648A>C

3 papers

NM_000743.5

p.H217Y

c.649C>T

1 paper

NM_000743.5

p.S195C

c.584C>G

1 paper

NM_000743.5

p.P229insFs

c.687dupC

5 papers

NM_000743.5

p.D230N

c.688G>A

1 paper

NM_000743.5

p.I192I

c.576C>T

3 papers

NM_000743.5

p.Y236_I237insFs

c.708_709insG