Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.D427D

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.D427D
c.1281C>T
Surrounding Variants
1 paper
NM_000079.4
p.M424T
c.1271T>C
4 papers
NM_000079.4
p.L431_G432insFs
c.1293_1294insG
4 papers
NM_000079.4
p.A423delFs
c.1267delC
1 paper
NM_000079.4
p.Y421F
c.1262A>T
1 paper
NM_000079.4
p.K420N
c.1260G>T
1 paper
NM_000079.4
p.L436_V437insTG
c.1306_1310ins6
1 paper
NM_000079.4
p.E418G
c.1253A>G
1 paper
NM_000079.4
p.A417V
c.1250C>T
1 paper
NM_000079.4
p.A417P
c.1249G>C
3 papers
NM_001039523.3
p.G466R
c.1396G>C
NM_000079.4
p.G441R
c.1321G>C
4 papers
NM_001039523.3
p.G466R
c.1396G>A
NM_000079.4
p.G441R
c.1321G>A
2 papers
NM_000079.4
p.A444V
c.1331C>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."