Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1

CHRNA1

187 papers

RefSeq Summary

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a rol...

Pfam Domains

Neur_chan_LBDaa 24–231UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 238–446UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic alpha 1 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle); cholinergic receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic alpha 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 197 variants
19 papers
NM_000079.4
p.P3A
c.7C>G
9 papers
NM_000079.4
p.G173S
c.517G>A
4 papers
NM_000079.4
p.Q78_Q79Splc
c.235-8G>A
4 papers
NM_000079.4
p.R229C
c.685C>T
4 papers
NM_000079.4
p.A423delFs
c.1267delC
4 papers
NM_000079.4
p.L431_G432insFs
c.1293_1294insG
3 papers
NM_000079.4
p.E22K
c.64G>A
3 papers
NM_000079.4
p.R40Q
c.119G>A
3 papers
NM_000079.4
p.R46C
c.136C>T
3 papers
NM_000079.4
p.R75H
c.224G>A
3 papers
NM_001039523.3
p.R86H
c.257G>A
3 papers
NM_000079.4
p.V176M
c.526G>A
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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."