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

2 papers

NM_000171.4

p.Y256C

c.767A>G

Surrounding Variants

1 paper

NM_000171.4

p.P258S

c.772C>T

2 papers

NM_000171.4

p.Q254E

c.760C>G

1 paper

NM_000171.4

p.M255_P258del0

c.765_773del9

2 papers

NM_000171.4

p.S259R

c.775A>C

1 paper

NM_000171.4

p.S259N

c.776G>A

2 papers

NM_000171.4

p.S259R

c.777C>G

2 papers

NM_000171.4

p.S259R

c.777C>A

1 paper

NM_000171.4

p.L252delFs

c.754delG

1 paper

NM_000171.4

p.L261F

c.781C>T

1 paper

NM_001292000.2

p.M165fs

c.493_494fs

1 paper

NM_001292000.2

p.M165insFs

c.494_495insAC

3 papers

NM_000171.4

p.R246Q

c.737G>A