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.V318E

c.953T>A

Surrounding Variants

1 paper

NM_000751.3

p.L319M

c.955C>A

1 paper

NM_000751.3

p.L314H

c.941T>A

1 paper

NM_000751.3

p.V325del1

c.973_974delGTG

1 paper

NM_000751.3

p.V328delFs

c.982_983delGT

1 paper

NM_000751.3

p.V328fs

c.982_983fs

5 papers

NM_000751.3

p.L331F

c.991C>T

1 paper

NM_000751.3

p.R336*

c.1006C>T

3 papers

NM_000751.3

p.R336Q

c.1007G>A

2 papers

NM_000751.3

p.K311Splc

c.932+5G>A

6 papers

NM_000751.3

p.P307S

c.919C>T

1 paper

NM_000751.3

p.P307delins

c.919_920delinsAG

1 paper

NM_000751.3

p.I306T

c.917T>C