Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.V319A

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.V319A
c.956T>C
Surrounding Variants
1 paper
NM_000747.3
p.L318H
c.953T>A
1 paper
NM_000747.3
p.M313T
c.938T>C
1 paper
NM_000747.3
p.T301T
c.903C>T
1 paper
NM_000747.3
p.K297N
c.891A>C
1 paper
NM_000747.3
p.L293Q
c.878T>A
1 paper
NM_000747.3
p.L291del1
c.871_872delCTG
1 paper
NM_000747.3
p.F290insFs
c.869_870insC
2 papers
NM_000747.3
p.F290V
c.868T>G
1 paper
NM_000747.3
p.F290fs
c.868_869fs
2 papers
NM_000747.3
p.V289A
c.866T>C
6 papers
NM_000747.3
p.V289M
c.865G>A
1 paper
NM_000747.3
p.T288S
c.863C>G
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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."