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.G92G

c.276A>G

Surrounding Variants

1 paper

NM_000824.5

p.S93S

c.279C>A

1 paper

NM_000824.5

p.T98I

c.293C>T

1 paper

NM_000824.5

p.T98T

c.294A>T

1 paper

NM_000824.5

p.M99fs

c.295_296fs

1 paper

NM_000824.5

p.M99L

c.295A>C

1 paper

NM_000824.5

p.N85S

c.254A>G

1 paper

NM_000824.5

p.G77Splc

c.229+10C>T

1 paper

NM_000824.5

p.K76_G77insFs

c.228_229insA

1 paper

NM_000824.5

p.R72S

c.216A>C

1 paper

NM_000824.5

p.R72S

c.216A>T

2 papers

NM_000824.5

p.D68E

c.204T>A

1 paper

NM_000824.5

p.V65_S66ins4

c.193_197ins12