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.H352Q

c.1056C>G

Surrounding Variants

1 paper

NM_000171.4

p.K353_E354Splc

c.1059+1G>A

1 paper

NM_000171.4

p.R350K

c.1049G>A

1 paper

NM_000171.4

p.R349L

c.1046G>T

1 paper

NM_000171.4

p.R344R

c.1032A>G

8 papers

NM_000171.4

p.R344*

c.1030C>T

1 paper

NM_000171.4

p.E341G

c.1022A>G

3 papers

NM_000171.4

p.V332I

c.994G>A

1 paper

NM_000171.4

p.S324*

c.971C>G

3 papers

NM_000171.4

p.S324*

c.971C>A

1 paper

NM_000171.4

p.L319P

c.956T>C

2 papers

NM_000171.4

p.W314*

c.942G>A

2 papers

NM_000171.4

p.W314*

c.941G>A