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.P307delins

c.919_920delinsAG

Surrounding Variants

6 papers

NM_000751.3

p.P307S

c.919C>T

1 paper

NM_000751.3

p.I306T

c.917T>C

1 paper

NM_000751.3

p.P307delFs

c.919_920delCC

2 papers

NM_000751.3

p.K311Splc

c.932+5G>A

1 paper

NM_000751.3

p.R298H

c.893G>A

1 paper

NM_000751.3

p.R298C

c.892C>T

1 paper

NM_000751.3

p.S296F

c.887C>T

5 papers

NM_000751.3

p.L294F

c.880C>T

1 paper

NM_000751.3

p.V290A

c.869T>C

2 papers

NM_000751.3

p.S289Y

c.866C>A

3 papers

NM_000751.3

p.S289F

c.866C>T

4 papers

NM_000751.3

p.Q288E

c.862C>G