Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.L269_P270insFs

CHRNB1

123 papers

RefSeq Summary

The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The...

Pfam Domains

Neur_chan_LBDaa 27–245UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 252–487UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic beta 1 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, beta polypeptide 1 (muscle); cholinergic receptor, nicotinic, beta 1 (muscle); cholinergic receptor, nicotinic beta 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000747.3
p.L269_P270insFs
c.807_808insT
Surrounding Variants
1 paper
NM_000747.3
p.P271T
c.811C>A
1 paper
NM_000747.3
p.P271A
c.811C>G
1 paper
NM_000747.3
p.P271Q
c.812C>A
2 papers
NM_000747.3
p.P271L
c.812C>T
1 paper
NM_000747.3
p.V266A
c.797T>C
1 paper
NM_000747.3
p.L262M
c.784C>A
1 paper
NM_000747.3
p.V252I
c.754G>A
1 paper
NM_000747.3
p.R243H
c.728G>A
5 papers
NM_000747.3
p.R243C
c.727C>T
4 papers
NM_000747.3
p.R242H
c.725G>A
1 paper
NM_000747.3
p.R242C
c.724C>T
1 paper
NM_000747.3
p.R232L
c.695G>T
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