Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB1
Variant:p.V113M

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.V113M
c.337G>A
Surrounding Variants
2 papers
NM_000747.3
p.V114M
c.340G>A
1 paper
NM_000747.3
p.L115L
c.345A>G
1 paper
NM_000747.3
p.I103M
c.309C>G
1 paper
NM_000747.3
p.R102P
c.305G>C
1 paper
NM_000747.3
p.Y86*
c.258C>G
1 paper
NM_000747.3
p.W83*
c.249G>A
1 paper
NM_000747.3
p.W83*
c.248G>A
1 paper
NM_000747.3
p.N118Splc
c.354-19T>G
1 paper
NM_000747.3
p.N118Splc
c.354-9T>C
1 paper
NM_000747.3
p.A126D
c.377C>A
1 paper
NM_000747.3
p.S135del1
c.403_405delTCC
2 papers
NM_000747.3
p.P144_I146ins1
c.432_437dup6
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