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

1–12 of 183 variants

8 papers

NM_000171.4

p.R100H

c.299G>A

8 papers

NM_000171.4

p.R299Q

c.896G>A

8 papers

NM_000171.4

p.R344*

c.1030C>T

6 papers

NM_000171.4

p.R299*

c.895C>T

6 papers

NM_000171.4

p.K304E

c.910A>G

6 papers

NM_000171.4

p.K304Q

c.910A>C

6 papers

NM_000171.4

p.Y307C

c.920A>G

5 papers

NM_000171.4

p.R93W

c.277C>T

5 papers

NM_000171.4

p.W96C

c.288G>T

5 papers

NM_000171.4

p.W96C

c.288G>C

5 papers

NM_000171.4

p.W198S

c.593G>C

4 papers

NM_000171.4

p.I71F

c.211A>T