Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_000080.4

p.E442_E443Splc

c.1327-2A>C

Surrounding Variants

9 papers

NM_000080.4

p.E443fs

c.1327_1328fs

32 papers

NM_000080.4

p.E443delFs

c.1327delC

1 paper

NM_000080.4

p.E443fs

c.1327_1328fs

1 paper

NM_000080.4

p.W447fs

c.1339_1340fs

1 paper

NM_000080.4

p.W447*

c.1340G>A

2 papers

NM_000080.4

p.V448L

c.1342G>T

3 papers

NM_000080.4

p.V448L

c.1342G>C

1 paper

NM_000080.4

p.R449C

c.1345C>T

1 paper

NM_000080.4

p.R449L

c.1346G>T

1 paper

NM_000080.4

p.N452fs

c.1354_1355fs

14 papers

NM_000080.4

p.G451_N452insFs

c.1353_1354insG

3 papers

NM_000080.4

p.N452fs

c.1354_1355fs