Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.I233L

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.I233L
c.697A>C
Surrounding Variants
1 paper
NM_000742.4
p.E230E
c.690G>A
1 paper
NM_000742.4
p.E230K
c.688G>A
1 paper
NM_000742.4
p.G229G
c.687C>T
1 paper
NM_000742.4
p.T237M
c.710C>T
1 paper
NM_000742.4
p.D246Y
c.736G>T
1 paper
NM_000742.4
p.T219fs
c.655_656fs
3 papers
NM_000742.4
p.Y252H
c.754T>C
1 paper
NM_000742.4
p.E214Q
c.640G>C
1 paper
NM_000742.4
p.P253P
c.759C>T
1 paper
NM_000742.4
p.V255I
c.763G>A
1 paper
NM_000742.4
p.S203_K210Fs
c.607_629delinsATAAGTCCAGFs
2 papers
NM_000742.4
p.Y257Y
c.771C>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."