Varaico: Literature-Extracted Genetic Variants

GLRB

102 papers

RefSeq Summary

This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hype...

Pfam Domains

Neur_chan_LBDaa 56–266UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 273–493UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

glycine receptor beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000824.5

p.E24*

c.70G>T

Surrounding Variants

1 paper

NM_000824.5

p.S22S

c.66T>G

1 paper

NM_000824.5

p.S22C

c.65C>G

1 paper

NM_000824.5

p.S22insFs

c.65_66ins4

1 paper

NM_000824.5

p.G32R

c.94G>A

1 paper

NM_000824.5

p.G32R

c.94G>C

2 papers

NM_000824.5

p.K33delFs

c.97delA

3 papers

NM_000824.5

p.S14Y

c.41C>A

2 papers

NM_000824.5

p.K34fs

c.100_101fs

1 paper

NM_000824.5

p.L38V

c.112C>G

1 paper

NM_000824.5

p.F9delFs

c.25delT

1 paper

NM_000824.5

p.P40T

c.118C>A

1 paper

NM_000824.5

p.T6K

c.17C>A