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

6 papers

NM_005199.5

p.V107G

c.320T>G

Surrounding Variants

1 paper

NM_005199.5

p.P103L

c.308C>T

1 paper

NM_005199.5

p.P103S

c.307C>T

1 paper

NM_005199.5

p.R101S

c.303G>C

1 paper

NM_005199.5

p.R101S

c.303G>T

2 papers

NM_005199.5

p.L100R

c.299T>G

1 paper

NM_005199.5

p.L100insFs

c.300dupG

1 paper

NM_005199.5

p.R101_P103ins1

c.301_309dup9

1 paper

NM_005199.5

p.N117_V118insC

c.349_353ins3

3 papers

NM_005199.5

p.W98_L100ins1

c.292_300dup9

1 paper

NM_005199.5

p.R92insFs

c.275_276insC

1 paper

NM_005199.5

p.R92*

c.274C>T

1 paper

NM_005199.5

p.P91L

c.272C>T