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

2 papers

NM_000743.5

p.P152L

c.455C>T

Surrounding Variants

1 paper

NM_000743.5

p.A153T

c.457G>A

1 paper

NM_000743.5

p.V147A

c.440T>C

1 paper

NM_000743.5

p.G145G

c.435G>T

1 paper

NM_000743.5

p.L140S

c.419T>C

1 paper

NM_000743.5

p.T164I

c.491C>T

1 paper

NM_000743.5

p.K138E

c.412A>G

1 paper

NM_000743.5

p.P167L

c.500C>T

1 paper

NM_000743.5

p.T137A

c.409A>G

1 paper

NM_000743.5

p.D134N

c.400G>A

1 paper

NM_000743.5

p.D130E

c.390T>G

1 paper

NM_000743.5

p.T174I

c.521C>T

1 paper

NM_000743.5

p.G178D

c.533G>A