Varaico: Literature-Extracted Genetic Variants

GLRA2

83 papers

RefSeq Summary

The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encodin...

Pfam Domains

Neur_chan_LBDaa 45–254UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 261–371UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

glycine receptor alpha 2

HGNC Previous Symbol

GLR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002063.4

p.D115N

c.343G>A

Surrounding Variants

1 paper

NM_002063.4

p.Y112*

c.336C>A

1 paper

NM_002063.4

p.Y112*

c.336C>G

2 papers

NM_002063.4

p.S110S

c.330T>C

1 paper

NM_002063.4

p.S110fs

c.328_329fs

1 paper

NM_002063.4

p.P121L

c.362C>T

1 paper

NM_002063.4

p.R106Q

c.317G>A

1 paper

NM_002063.4

p.S126Y

c.377C>A

1 paper

NM_002063.4

p.Q101insFs

c.302_303insCG

1 paper

NM_002063.4

p.P130L

c.389C>T

10 papers

NM_002063.4

p.N136S

c.407A>G

1 paper

NM_002063.4

p.R93*

c.277C>T

9 papers

NM_002063.4

p.R153Q

c.458G>A