Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE

CHRNE

279 papers

RefSeq Summary

Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delt...

Pfam Domains

Neur_chan_LBDaa 24–240UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 247–474UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic epsilon subunit

HGNC Alias Symbol

ACHRE

Papers
RefSeq ID
Protein change
DNA change
1–12 of 364 variants
32 papers
NM_000080.4
p.E443delFs
c.1327delC
31 papers
NM_000080.4
p.A431_E432insFs
c.1293_1294insG
16 papers
NM_000080.4
p.E44insFs
c.130dupG
14 papers
NM_000080.4
p.G451_N452insFs
c.1353_1354insG
11 papers
NM_000080.4
p.P141L
c.422C>T
10 papers
NM_000080.4
p.L289F
c.865C>T
9 papers
NM_000080.4
p.E24insFs
c.70_71insG
9 papers
NM_000080.4
p.I61_L63insFs
c.183_187dup5
9 papers
NM_000080.4
p.E443fs
c.1327_1328fs
8 papers
NM_000080.4
p.Y35H
c.103T>C
8 papers
NM_000080.4
p.R99*
c.295C>T
7 papers
NM_000080.4
p.E44fs
c.130_131fs
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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."