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.S361G

c.1081A>G

Surrounding Variants

1 paper

NM_000743.5

p.E363D

c.1089G>T

1 paper

NM_000743.5

p.E363D

c.1089G>C

1 paper

NM_000743.5

p.G364S

c.1090G>A

1 paper

NM_000743.5

p.M356I

c.1068G>T

1 paper

NM_000743.5

p.M356I

c.1068G>C

1 paper

NM_000743.5

p.M356I

c.1068G>A

1 paper

NM_000743.5

p.P351S

c.1051C>T

4 papers

NM_000743.5

p.P371L

c.1112C>T

1 paper

NM_000743.5

p.L372F

c.1114C>T

1 paper

NM_000743.5

p.E376K

c.1126G>A

2 papers

NM_000743.5

p.S340*

c.1019C>G

2 papers

NM_000743.5

p.S340*

c.1019C>A