Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA1
Variant:p.R86H

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
3 papers
NM_001039523.3
p.R86H
c.257G>A
Surrounding Variants
1 paper
NM_000079.4
p.Q78_Q79Splc
c.235-8G>T
1 paper
NM_000079.4
p.Q78_Q79Splc
c.235-8G>C
4 papers
NM_000079.4
p.Q78_Q79Splc
c.235-8G>A
1 paper
NM_000079.4
p.Q78_Q79Splc
c.235-1G>A
1 paper
NM_000079.4
p.Q79E
c.235C>G
1 paper
NM_000079.4
p.Q79K
c.235C>A
1 paper
NM_000079.4
p.Q79R
c.236A>G
1 paper
NM_000079.4
p.Y83*
c.249C>G
1 paper
NM_000079.4
p.Y83*
c.249C>A
3 papers
NM_000079.4
p.L85P
c.254T>C
NM_001039523.3
p.L110P
c.329T>C
1 paper
NM_000079.4
p.N88K
c.264T>G
1 paper
NM_000079.4
p.N88K
c.264T>A
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