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.M1R

c.2T>G

Surrounding Variants

1 paper

NM_000743.5

p.M1I

c.3G>A

2 papers

NM_000743.5

p.M1V

c.1A>G

1 paper

NM_000743.5

p.L6del1

c.16_18delGAG

5 papers

NM_000743.5

p.L8delFs

c.23delA

1 paper

NM_000743.5

p.L12insFs

c.34_35insG

1 paper

NM_000743.5

p.R16G

c.46C>G

1 paper

NM_000743.5

p.R16_L17ins0

c.47_49dupGGC

2 papers

NM_000743.5

p.L17R

c.50T>G

1 paper

NM_000743.5

p.R16_L17delFs

c.48_51del4

1 paper

NM_000743.5

p.L19fs

c.55_56fs

1 paper

NM_000743.5

p.L19delFs

c.55delG

1 paper

NM_000743.5

p.R16_L18del3

c.46_53del9