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

1–12 of 135 variants

17 papers

NM_000743.5

p.L23del1

c.67_68delCAG

11 papers

NM_000743.5

p.R37H

c.110G>A

8 papers

NM_000743.5

p.Y215Y

c.645C>T

5 papers

NM_000743.5

p.L8delFs

c.23delA

5 papers

NM_000743.5

p.D230N

c.688G>A

5 papers

NM_000743.5

p.L303delFs

c.907_908delAG

4 papers

NM_000743.5

p.S67_S69del3

c.199_206del9

4 papers

NM_000743.5

p.L303fs

c.907_908fs

4 papers

NM_000743.5

p.P371L

c.1112C>T

3 papers

NM_000743.5

p.T83insFs

c.247_248insG

3 papers

NM_000743.5

p.H217Y

c.649C>T

3 papers

NM_000743.5

p.Y236_I237insFs

c.708_709insG