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.L301V

c.901C>G

Surrounding Variants

1 paper

NM_000824.5

p.G302Splc

c.904+1G>A

1 paper

NM_000824.5

p.A294V

c.881C>T

1 paper

NM_000824.5

p.A294T

c.880G>A

1 paper

NM_000824.5

p.S284F

c.851C>T

1 paper

NM_000824.5

p.T277T

c.831T>C

1 paper

NM_000824.5

p.M270T

c.809T>C

1 paper

NM_000824.5

p.R264W

c.790A>T

3 papers

NM_000824.5

p.Y252S

c.755A>C

1 paper

NM_000824.5

p.G251D

c.752G>A

1 paper

NM_000824.5

p.G251Splc

c.751+5G>A

1 paper

NM_000824.5

p.G251D

c.752G>A

1 paper

NM_000824.5

p.G251S

c.751G>A