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

5 papers

NM_000171.4

p.W198S

c.593G>C

Surrounding Variants

1 paper

NM_000171.4

p.W198*

c.593G>A

1 paper

NM_000171.4

p.W198*

c.594G>A

1 paper

NM_000171.4

p.D193G

c.578A>G

2 papers

NM_000171.4

p.Q205K

c.613C>A

4 papers

NM_000171.4

p.T190M

c.569C>T

1 paper

NM_000171.4

p.G188R

c.562G>C

1 paper

NM_000171.4

p.G188R

c.562G>A

1 paper

NM_000171.4

p.L212fs

c.634_635fs

1 paper

NM_000171.4

p.P213insFs

c.638_639insA

1 paper

NM_000171.4

p.I216_L217delFs

c.646_649del4

1 paper

NM_000171.4

p.E219*

c.655G>T

1 paper

NM_000171.4

p.Y225*

c.675C>G