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

1–12 of 154 variants

7 papers

NM_000751.3

p.N39K

c.117C>G

7 papers

NM_000751.3

p.R43W

c.127C>T

6 papers

NM_000751.3

p.N39K

c.117C>A

6 papers

NM_000751.3

p.P307S

c.919C>T

5 papers

NM_000751.3

p.W78*

c.234G>A

5 papers

NM_000751.3

p.L294F

c.880C>T

5 papers

NM_000751.3

p.L331F

c.991C>T

5 papers

NM_000751.3

p.L431_F432insFs

c.1293_1294insG

5 papers

NM_000751.3

p.R464*

c.1390C>T

4 papers

NM_000751.3

p.L63P

c.188T>C

4 papers

NM_000751.3

p.I79K

c.236T>A

4 papers

NM_000751.3

p.E80K

c.238G>A