Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.R72C

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.R72C
c.214C>T
Surrounding Variants
1 paper
NM_000742.4
p.R72H
c.215G>A
1 paper
NM_000742.4
p.N71H
c.211A>C
1 paper
NM_000742.4
p.R75C
c.223C>T
1 paper
NM_000742.4
p.R68W
c.202C>T
1 paper
NM_000742.4
p.L66R
c.197T>G
1 paper
NM_000742.4
p.P78S
c.232C>T
2 papers
NM_000742.4
p.R61Q
c.182G>A
1 paper
NM_000742.4
p.T58I
c.173C>T
1 paper
NM_000742.4
p.S91F
c.272C>T
1 paper
NM_000742.4
p.G52R
c.154G>C
1 paper
NM_000742.4
p.G52R
c.154G>A
1 paper
NM_000742.4
p.T47M
c.140C>T
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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."