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

2 papers

NM_000751.3

p.E457_E458Splc

c.1372-1G>A

Surrounding Variants

2 papers

NM_000751.3

p.E458fs

c.1372_1373fs

1 paper

NM_000751.3

p.D460insFs

c.1378_1379insC

1 paper

NM_000751.3

p.D460E

c.1380C>A

1 paper

NM_000751.3

p.D460E

c.1380C>G

5 papers

NM_000751.3

p.R464*

c.1390C>T

1 paper

NM_000751.3

p.R464Q

c.1391G>A

1 paper

NM_000751.3

p.R471C

c.1411C>T

1 paper

NM_000751.3

p.M481del1

c.1441_1442delATG

1 paper

NM_000751.3

p.I488N

c.1463T>A

1 paper

NM_000751.3

p.P503insFs

c.1508_1509insC

1 paper

NM_000751.3

p.R515C

c.1543C>T

1 paper

NM_000751.3

p.E457delFs

c.1369delG