Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.M167K

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
2 papers
NM_000747.3
p.M167K
c.500T>A
Surrounding Variants
1 paper
NM_000747.3
p.S171_Y174del0
c.512_520del9
3 papers
NM_000747.3
p.Y172*
c.516C>A
3 papers
NM_000747.3
p.Y172*
c.516C>G
1 paper
NM_000747.3
p.F160L
c.480C>A
1 paper
NM_000747.3
p.F160L
c.480C>G
1 paper
NM_000747.3
p.F160L
c.478T>C
1 paper
NM_000747.3
p.G189R
c.565G>A
1 paper
NM_000747.3
p.G191R
c.571G>A
1 paper
NM_000747.3
p.G191R
c.571G>C
1 paper
NM_000747.3
p.I203V
c.607A>G
1 paper
NM_000747.3
p.E204Splc
c.610+6T>C
1 paper
NM_000747.3
p.C151R
c.451T>C
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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."