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.P333L

c.998C>T

Surrounding Variants

1 paper

NM_000743.5

p.T337fs

c.1009_1010fs

1 paper

NM_000743.5

p.H329Y

c.985C>T

1 paper

NM_000743.5

p.T337fs

c.1009_1010fs

3 papers

NM_000743.5

p.T337delFs

c.1010_1011delTG

2 papers

NM_000743.5

p.S340*

c.1019C>G

2 papers

NM_000743.5

p.S340*

c.1019C>A

1 paper

NM_000743.5

p.S318P

c.952T>C

1 paper

NM_000743.5

p.P351S

c.1051C>T

1 paper

NM_000743.5

p.F314delFs

c.942delA

1 paper

NM_000743.5

p.F314fs

c.940_941fs

1 paper

NM_000743.5

p.M356I

c.1068G>T

1 paper

NM_000743.5

p.M356I

c.1068G>C