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

4 papers

NM_000171.4

p.I71F

c.211A>T

Surrounding Variants

3 papers

NM_000171.4

p.V67M

c.199G>A

1 paper

NM_000171.4

p.F76_G77insFs

c.228_229insA

1 paper

NM_000171.4

p.V65_N66ins4

c.193_197ins12

1 paper

NM_000171.4

p.A80A

c.240T>C

1 paper

NM_000171.4

p.R57_F60del0

c.171_179del9

1 paper

NM_000171.4

p.A54T

c.160G>A

2 papers

NM_000171.4

p.Y52*

c.156T>G

2 papers

NM_000171.4

p.Y52*

c.156T>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

2 papers

NM_000171.4

p.F41C

c.122T>G