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.L354P

c.1061T>C

Surrounding Variants

2 papers

NM_000824.5

p.P357H

c.1070C>A

2 papers

NM_000824.5

p.Q351*

c.1051C>T

1 paper

NM_000824.5

p.R359G

c.1075A>G

1 paper

NM_000824.5

p.A348V

c.1043C>T

4 papers

NM_000824.5

p.S343F

c.1028C>T

1 paper

NM_000824.5

p.G340fs

c.1018_1019fs

1 paper

NM_000824.5

p.G340insFs

c.1018_1019insAG

1 paper

NM_000824.5

p.W332C

c.996G>C

1 paper

NM_000824.5

p.W332C

c.996G>T

1 paper

NM_000824.5

p.D330H

c.988G>C

1 paper

NM_000824.5

p.V386V

c.1158G>A

1 paper

NM_000824.5

p.T314A

c.940A>G