Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2

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
1–12 of 104 variants
24 papers
NM_000742.4
p.I279N
c.836T>A
8 papers
NM_000742.4
p.I297F
c.889A>T
6 papers
NM_000742.4
p.T22I
c.65C>T
5 papers
NM_000742.4
p.T125A
c.373A>G
4 papers
NM_000742.4
p.R376W
c.1126C>T
3 papers
NM_000742.4
p.Y252H
c.754T>C
3 papers
NM_000742.4
p.S280F
c.839C>T
2 papers
NM_000742.4
p.R61Q
c.182G>A
2 papers
NM_000742.4
p.W204*
c.611G>A
2 papers
NM_000742.4
p.W204*
c.612G>A
2 papers
NM_000742.4
p.Y257Y
c.771C>T
2 papers
NM_000742.4
p.E295K
c.883G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."