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

1–12 of 119 variants

5 papers

NM_000824.5

p.R50*

c.148C>T

4 papers

NM_000824.5

p.M99_D100Splc

c.298-1G>A

4 papers

NM_000824.5

p.S343F

c.1028C>T

3 papers

NM_000824.5

p.S14Y

c.41C>A

3 papers

NM_000824.5

p.E24*

c.70G>T

3 papers

NM_000824.5

p.Y252S

c.755A>C

2 papers

NM_000824.5

p.K33delFs

c.97delA

2 papers

NM_000824.5

p.K34fs

c.100_101fs

2 papers

NM_000824.5

p.D68E

c.204T>A

2 papers

NM_000824.5

p.L116P

c.347T>C

2 papers

NM_000824.5

p.M199R

c.596T>G

2 papers

NM_000824.5

p.F204Splc

c.610+5G>A