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

2 papers

NM_000824.5

p.F204Splc

c.610+5G>A

Surrounding Variants

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

1 paper

NM_000824.5

p.R176G

c.526A>G

1 paper

NM_000824.5

p.R167C

c.499C>T

1 paper

NM_000824.5

p.F166V

c.496T>G

1 paper

NM_000824.5

p.F164L

c.492T>A

1 paper

NM_000824.5

p.F164L

c.492T>G

1 paper

NM_000824.5

p.F164L

c.490T>C

1 paper

NM_000824.5

p.F164V

c.490T>G

1 paper

NM_000824.5

p.Y135N

c.403T>A

1 paper

NM_000824.5

p.D131E

c.393T>A