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

5 papers

NM_000743.5

p.L303delFs

c.907_908delAG

Surrounding Variants

1 paper

NM_000743.5

p.I304insFs

c.910dupA

4 papers

NM_000743.5

p.L303fs

c.907_908fs

1 paper

NM_000743.5

p.L303V

c.907C>G

1 paper

NM_000743.5

p.I304fs

c.910_911fs

1 paper

NM_000743.5

p.I294_P295insFs

c.880_883dup4

1 paper

NM_000743.5

p.T293A

c.877A>G

1 paper

NM_000743.5

p.F314fs

c.940_941fs

1 paper

NM_000743.5

p.F314delFs

c.942delA

1 paper

NM_000743.5

p.S318P

c.952T>C

1 paper

NM_000743.5

p.L287P

c.860T>C

1 paper

NM_000743.5

p.L283V

c.847C>G

1 paper

NM_000743.5

p.V279F

c.835G>T