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.E105D

c.315A>T

Surrounding Variants

1 paper

NM_000171.4

p.E105D

c.315A>C

1 paper

NM_000171.4

p.E105*

c.313G>T

1 paper

NM_000171.4

p.L101M

c.301C>A

8 papers

NM_000171.4

p.R100H

c.299G>A

2 papers

NM_000171.4

p.R100C

c.298C>T

1 paper

NM_000171.4

p.R100fs

c.298_299fs

3 papers

NM_000171.4

p.D98E

c.294C>G

3 papers

NM_000171.4

p.D98E

c.294C>A

2 papers

NM_000171.4

p.D98N

c.292G>A

5 papers

NM_000171.4

p.W96C

c.288G>T

5 papers

NM_000171.4

p.W96C

c.288G>C

2 papers

NM_000171.4

p.R93L

c.278G>T