Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1

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
1–12 of 90 variants
8 papers
NM_000747.3
p.M465T
c.1394T>C
6 papers
NM_000747.3
p.E32G
c.95A>G
6 papers
NM_000747.3
p.V289M
c.865G>A
5 papers
NM_000747.3
p.R243C
c.727C>T
4 papers
NM_000747.3
p.R242H
c.725G>A
3 papers
NM_000747.3
p.Y172*
c.516C>A
3 papers
NM_000747.3
p.Y172*
c.516C>G
2 papers
NM_000747.3
p.Y38C
c.113A>G
2 papers
NM_000747.3
p.V114M
c.340G>A
2 papers
NM_000747.3
p.P144_I146ins1
c.432_437dup6
2 papers
NM_000747.3
p.M167K
c.500T>A
2 papers
NM_000747.3
p.P271L
c.812C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."