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

1 paper

NM_000171.4

p.T293I

c.878C>T

Surrounding Variants

3 papers

NM_000171.4

p.Q294H

c.882G>T

3 papers

NM_000171.4

p.Q294H

c.882G>C

1 paper

NM_000171.4

p.T292A

c.874A>G

1 paper

NM_000171.4

p.S295N

c.884G>A

1 paper

NM_000171.4

p.S296A

c.886T>G

1 paper

NM_000171.4

p.T290I

c.869C>T

1 paper

NM_000171.4

p.S298T

c.892T>A

3 papers

NM_000171.4

p.V288M

c.862G>A

6 papers

NM_000171.4

p.R299*

c.895C>T

2 papers

NM_000171.4

p.R299L

c.896G>T

2 papers

NM_000171.4

p.R299P

c.896G>C

8 papers

NM_000171.4

p.R299Q

c.896G>A