Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.N405Y

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.N405Y
c.1213A>T
Surrounding Variants
1 paper
NM_000747.3
p.K403_N405del3
c.1207_1214del9
1 paper
NM_000747.3
p.R367I
c.1100G>T
1 paper
NM_000747.3
p.Q348_I349Splc
c.1045-6C>G
1 paper
NM_000747.3
p.R406Splc
c.1218-1G>C
1 paper
NM_000747.3
p.Q408*
c.1222C>T
1 paper
NM_000747.3
p.I420T
c.1259T>C
1 paper
NM_000747.3
p.G422D
c.1265G>A
1 paper
NM_000747.3
p.S441G
c.1321A>G
1 paper
NM_000747.3
p.A455_L456Splc
c.1365+5G>A
1 paper
NM_000747.3
p.V319A
c.956T>C
1 paper
NM_000747.3
p.L318H
c.953T>A
1 paper
NM_000747.3
p.M313T
c.938T>C
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."