Varaico: Literature-Extracted Genetic Variants

CHRND

165 papers

RefSeq Summary

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conform...

Pfam Domains

Neur_chan_LBDaa 25–246UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 253–489UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic delta subunit

HGNC Previous Symbol

ACHRD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000751.3

p.E24K

c.70G>A

Surrounding Variants

2 papers

NM_000751.3

p.E24insFs

c.70_71insG

1 paper

NM_000751.3

p.N23I

c.68A>T

1 paper

NM_000751.3

p.E26insFs

c.78dupG

1 paper

NM_000751.3

p.W20*

c.60G>A

1 paper

NM_000751.3

p.W20*

c.59G>A

1 paper

NM_000751.3

p.G18Splc

c.53-1G>A

6 papers

NM_000751.3

p.N39K

c.117C>A

7 papers

NM_000751.3

p.N39K

c.117C>G

3 papers

NM_000751.3

p.L42P

c.125T>C

7 papers

NM_000751.3

p.R43W

c.127C>T

2 papers

NM_000751.3

p.R43Q

c.128G>A

1 paper

NM_000751.3

p.A57S

c.169G>T