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

4 papers

NM_000751.3

p.I79K

c.236T>A

Surrounding Variants

5 papers

NM_000751.3

p.W78*

c.234G>A

4 papers

NM_000751.3

p.E80K

c.238G>A

3 papers

NM_000751.3

p.W78*

c.233G>A

3 papers

NM_000751.3

p.H81_G82Splc

c.243+1G>A

1 paper

NM_000751.3

p.N76D

c.226A>G

1 paper

NM_000751.3

p.T72N

c.215C>A

1 paper

NM_000751.3

p.E70K

c.208G>A

1 paper

NM_000751.3

p.K67Q

c.199A>C

1 paper

NM_000751.3

p.K67E

c.199A>G

4 papers

NM_000751.3

p.L63P

c.188T>C

1 paper

NM_000751.3

p.L60I

c.178C>A

1 paper

NM_000751.3

p.L58H

c.173T>A