Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.G173insFs

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
Selected Variant
1 paper
NM_000079.4
p.G173insFs
c.518dupG
Surrounding Variants
2 papers
NM_000079.4
p.G173A
c.518G>C
10 papers
NM_000079.4
p.G173S
c.517G>A
NM_001039523.3
p.G198S
c.592G>A
3 papers
NM_000079.4
p.V176M
c.526G>A
1 paper
NM_000079.4
p.A177T
c.529G>A
1 paper
NM_000079.4
p.I178insFs
c.532_533insA
2 papers
NM_000079.4
p.W169R
c.505T>C
2 papers
NM_000079.4
p.W169R
c.505T>A
1 paper
NM_000079.4
p.M164fs
c.490_491fs
1 paper
NM_000079.4
p.M164delFs
c.490delT
1 paper
NM_000079.4
p.E159E
c.477A>G
1 paper
NM_000079.4
p.T153S
c.458C>G
1 paper
NM_000079.4
p.T153S
c.457A>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."