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

6 papers

NM_000171.4

p.K304E

c.910A>G

Surrounding Variants

6 papers

NM_000171.4

p.K304Q

c.910A>C

1 paper

NM_000171.4

p.K304T

c.911A>C

2 papers

NM_000171.4

p.A300P

c.898G>C

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

6 papers

NM_000171.4

p.R299*

c.895C>T

1 paper

NM_000171.4

p.S298T

c.892T>A

1 paper

NM_000171.4

p.S296A

c.886T>G

1 paper

NM_000171.4

p.S295N

c.884G>A

3 papers

NM_000171.4

p.Q294H

c.882G>T

3 papers

NM_000171.4

p.Q294H

c.882G>C