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.D440V

c.1319A>T

Surrounding Variants

1 paper

NM_000751.3

p.V439M

c.1315G>A

2 papers

NM_000751.3

p.V439fs

c.1315_1316fs

1 paper

NM_000751.3

p.A442T

c.1324G>A

1 paper

NM_000751.3

p.V439delFs

c.1315delG

2 papers

NM_000751.3

p.L435P

c.1304T>C

2 papers

NM_000751.3

p.I445T

c.1334T>C

5 papers

NM_000751.3

p.L431_F432insFs

c.1293_1294insG

1 paper

NM_000751.3

p.Q428_E434delFs

c.1283_1302del20

1 paper

NM_000751.3

p.N453_E457delFs

c.1357_1370del14

1 paper

NM_000751.3

p.A427A

c.1281C>T

1 paper

NM_000751.3

p.N456del1

c.1366_1367delAAT

1 paper

NM_000751.3

p.N456S

c.1367A>G