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

1 paper

NM_000824.5

p.I226insFs

c.676dupA

Surrounding Variants

1 paper

NM_000824.5

p.E224K

c.670G>A

1 paper

NM_000824.5

p.I226fs

c.676_677fs

1 paper

NM_000824.5

p.Q230*

c.688C>T

1 paper

NM_000824.5

p.Q216_S217delFs

c.646_649del4

2 papers

NM_000824.5

p.R212*

c.634C>T

1 paper

NM_000824.5

p.G251S

c.751G>A

1 paper

NM_000824.5

p.G251D

c.752G>A

1 paper

NM_000824.5

p.G251Splc

c.751+5G>A

2 papers

NM_000824.5

p.F204Splc

c.610+5G>A

2 papers

NM_000824.5

p.M199R

c.596T>G

1 paper

NM_000824.5

p.P191L

c.572C>T

1 paper

NM_000824.5

p.C183F

c.548G>T