Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.I235M

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.I235M
c.705C>G
Surrounding Variants
1 paper
NM_000079.4
p.I235N
c.704T>A
1 paper
NM_000079.4
p.V236V
c.708C>T
1 paper
NM_000079.4
p.N237K
c.711C>G
1 paper
NM_000079.4
p.N237K
c.711C>A
1 paper
NM_000079.4
p.V238I
c.712G>A
1 paper
NM_000079.4
p.Y233H
c.697T>C
1 paper
NM_000079.4
p.Y233N
c.697T>A
1 paper
NM_000079.4
p.L232L
c.696C>T
1 paper
NM_000079.4
p.I239fs
c.715_716fs
1 paper
NM_001039523.3
p.R254R
c.762C>T
1 paper
NM_000079.4
p.I240_P241del2
c.718_722del6
1 paper
NM_001039523.3
p.R254L
c.761G>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."