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.Y101D

c.301T>G

Surrounding Variants

1 paper

NM_000824.5

p.Y101S

c.302A>C

1 paper

NM_000824.5

p.Y101*

c.303T>A

1 paper

NM_000824.5

p.R102delFs

c.305delG

1 paper

NM_000824.5

p.R102fs

c.304_305fs

4 papers

NM_000824.5

p.M99_D100Splc

c.298-1G>A

1 paper

NM_000824.5

p.V103I

c.307G>A

1 paper

NM_000824.5

p.Q109*

c.325C>T

1 paper

NM_000824.5

p.Q109P

c.326A>C

1 paper

NM_000824.5

p.R115T

c.344G>C

2 papers

NM_000824.5

p.L116P

c.347T>C

1 paper

NM_000824.5

p.D126Y

c.376G>T

1 paper

NM_000824.5

p.L128L

c.384G>C