Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.L10P

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.L10P
c.29T>C
Surrounding Variants
1 paper
NM_000747.3
p.M1I
c.3G>A
1 paper
NM_000747.3
p.M1I
c.3G>T
1 paper
NM_000747.3
p.G20Splc
c.59-1G>A
1 paper
NM_000747.3
p.S24insFs
c.70_71insG
1 paper
NM_000747.3
p.A26insFs
c.78dupG
6 papers
NM_000747.3
p.E32G
c.95A>G
1 paper
NM_000747.3
p.F35F
c.105C>T
2 papers
NM_000747.3
p.Y38C
c.113A>G
1 paper
NM_000747.3
p.Y38*
c.114T>A
1 paper
NM_000747.3
p.Y38*
c.114T>G
1 paper
NM_000747.3
p.P44fs
c.130_131fs
1 paper
NM_000747.3
p.R46W
c.136C>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."