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.A53A

c.159C>T

Surrounding Variants

5 papers

NM_000824.5

p.R50*

c.148C>T

1 paper

NM_000824.5

p.N61D

c.181A>G

1 paper

NM_000824.5

p.E46*

c.136G>T

1 paper

NM_000824.5

p.N61K

c.183C>A

1 paper

NM_000824.5

p.N61K

c.183C>G

1 paper

NM_000824.5

p.V65_S66ins4

c.193_197ins12

2 papers

NM_000824.5

p.D68E

c.204T>A

1 paper

NM_000824.5

p.R72S

c.216A>C

1 paper

NM_000824.5

p.R72S

c.216A>T

1 paper

NM_000824.5

p.K76_G77insFs

c.228_229insA

1 paper

NM_000824.5

p.G77Splc

c.229+10C>T

1 paper

NM_000824.5

p.N85S

c.254A>G