Varaico: Literature-Extracted Genetic Variants

Gene:CHRNB2
Variant:p.I475V

CHRNB2

231 papers

RefSeq Summary

Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow ...

Pfam Domains

Neur_chan_LBDaa 29–234UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 241–478UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic beta 2 subunit

HGNC Previous Names

cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal); cholinergic receptor, nicotinic, beta 2 (neuronal); cholinergic receptor, nicotinic beta 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000748.3
p.I475V
c.1423A>G
Surrounding Variants
1 paper
NM_000748.3
p.F472S
c.1415T>C
3 papers
NM_000748.3
p.F478L
c.1432T>C
3 papers
NM_000748.3
p.F478L
c.1434C>A
3 papers
NM_000748.3
p.F478L
c.1434C>G
1 paper
NM_000748.3
p.C470R
c.1408T>C
3 papers
NM_000748.3
p.V469V
c.1407C>G
2 papers
NM_000748.3
p.L461F
c.1381C>T
1 paper
NM_000748.3
p.R460R
c.1380C>G
2 papers
NM_000748.3
p.R460H
c.1379G>A
6 papers
NM_000748.3
p.R460G
c.1378C>G
1 paper
NM_000748.3
p.D459E
c.1377C>A
1 paper
NM_000748.3
p.D459E
c.1377C>G
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