Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.R40W

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
2 papers
NM_000079.4
p.R40W
c.118C>T
Surrounding Variants
3 papers
NM_000079.4
p.R40Q
c.119G>A
1 paper
NM_000079.4
p.V38M
c.112G>A
1 paper
NM_000079.4
p.D44N
c.130G>A
1 paper
NM_000079.4
p.Y35Y
c.105C>T
1 paper
NM_000079.4
p.Y35H
c.103T>C
3 papers
NM_000079.4
p.R46C
c.136C>T
1 paper
NM_000079.4
p.V49M
c.145G>A
1 paper
NM_000079.4
p.R26insFs
c.78dupT
1 paper
NM_000079.4
p.E24D
c.72G>C
2 papers
NM_000079.4
p.E24insFs
c.70_71insG
1 paper
NM_000079.4
p.E24K
c.70G>A
1 paper
NM_000079.4
p.Q56*
c.166C>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."