Varaico: Literature-Extracted Genetic Variants

GLRA1

151 papers

RefSeq Summary

The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of sta...

Pfam Domains

Neur_chan_LBDaa 39–248UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 255–408UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

glycine receptor alpha 1

HGNC Previous Symbol

STHE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000171.4

p.Y52*

c.156T>G

Surrounding Variants

2 papers

NM_000171.4

p.Y52*

c.156T>A

1 paper

NM_000171.4

p.A54T

c.160G>A

2 papers

NM_000171.4

p.G51R

c.151G>C

2 papers

NM_000171.4

p.G51R

c.151G>A

1 paper

NM_000171.4

p.G47A

c.140G>C

1 paper

NM_000171.4

p.R57_F60del0

c.171_179del9

2 papers

NM_000171.4

p.F41C

c.122T>G

1 paper

NM_000171.4

p.A26_M36del0

c.77_106del30

1 paper

NM_000171.4

p.M36L

c.106A>C

1 paper

NM_000171.4

p.K34T

c.101A>C

1 paper

NM_000171.4

p.K24delFs

c.72delC

1 paper

NM_000171.4

p.S19_S23delFs

c.57_67del11