Varaico: Literature-Extracted Genetic Variants

CHRNG

175 papers

RefSeq Summary

The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal ...

Pfam Domains

Neur_chan_LBDaa 26–241UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 248–492UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

cholinergic receptor nicotinic gamma subunit

HGNC Previous Symbol

ACHRG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005199.5

p.A213_M215delFs

c.639_643del5

Surrounding Variants

1 paper

NM_005199.5

p.A213delFs

c.638delC

1 paper

NM_005199.5

p.H210Y

c.628C>T

1 paper

NM_005199.5

p.D218Y

c.652G>T

1 paper

NM_005199.5

p.P219_A220delFs

c.656_659del4

1 paper

NM_005199.5

p.E202E

c.606G>A

1 paper

NM_005199.5

p.Q229_K230delFs

c.687_688delGA

1 paper

NM_005199.5

p.V232V

c.696G>A

11 papers

NM_005199.5

p.R239C

c.715C>T

1 paper

NM_005199.5

p.F243del1

c.727_729delTTC

2 papers

NM_005199.5

p.P251fs

c.751_752fs

1 paper

NM_005199.5

p.P251L

c.752C>T

20 papers

NM_005199.5

p.P251_C252delFs

c.753_754delCT