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

1 paper

NM_000751.3

p.A57S

c.169G>T

Surrounding Variants

1 paper

NM_000751.3

p.L58F

c.172C>T

1 paper

NM_000751.3

p.L58H

c.173T>A

1 paper

NM_000751.3

p.L60I

c.178C>A

4 papers

NM_000751.3

p.L63P

c.188T>C

2 papers

NM_000751.3

p.R43Q

c.128G>A

7 papers

NM_000751.3

p.R43W

c.127C>T

3 papers

NM_000751.3

p.L42P

c.125T>C

6 papers

NM_000751.3

p.N39K

c.117C>A

7 papers

NM_000751.3

p.N39K

c.117C>G

1 paper

NM_000751.3

p.E26insFs

c.78dupG

3 papers

NM_000751.3

p.E24K

c.70G>A

2 papers

NM_000751.3

p.E24insFs

c.70_71insG