Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.S167F

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.S167F
c.500C>T
Surrounding Variants
1 paper
NM_000742.4
p.S167C
c.500C>G
1 paper
NM_000742.4
p.Y179C
c.536A>G
1 paper
NM_000742.4
p.Y179*
c.537C>G
1 paper
NM_000742.4
p.Y179*
c.537C>A
1 paper
NM_000742.4
p.E154*
c.460G>T
1 paper
NM_000742.4
p.C183*
c.549C>A
1 paper
NM_000742.4
p.F201S
c.602T>C
2 papers
NM_000742.4
p.W204*
c.611G>A
2 papers
NM_000742.4
p.W204*
c.612G>A
1 paper
NM_000742.4
p.S203_K210Fs
c.607_629delinsATAAGTCCAGFs
1 paper
NM_000742.4
p.E214Q
c.640G>C
1 paper
NM_000742.4
p.T219fs
c.655_656fs
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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."