Varaico: Literature-Extracted Genetic Variants

CHRNA2

140 papers

RefSeq Summary

Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal recept...

Pfam Domains

Neur_chan_LBDaa 59–265UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 272–520UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 2 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal); cholinergic receptor, nicotinic, alpha 2 (neuronal); cholinergic receptor, nicotinic alpha 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000742.4

p.R394C

c.1180C>T