Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.I98N

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.I98N
c.293T>A
Surrounding Variants
1 paper
NM_000079.4
p.I98insFs
c.292dupA
1 paper
NM_001039523.3
p.H124P
c.371A>C
1 paper
NM_000079.4
p.G94C
c.280G>T
1 paper
NM_000079.4
p.Y92insFs
c.275_276insC
1 paper
NM_000079.4
p.W106*
c.317G>A
1 paper
NM_000079.4
p.W106*
c.318G>A
1 paper
NM_000079.4
p.R107H
c.320G>A
1 paper
NM_000079.4
p.P89A
c.265C>G
1 paper
NM_000079.4
p.P89fs
c.265_266fs
1 paper
NM_000079.4
p.N88K
c.264T>G
1 paper
NM_000079.4
p.N88K
c.264T>A
1 paper
NM_000079.4
p.L110P
c.329T>C
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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."