Varaico: Literature-Extracted Genetic Variants

GLRA3

48 papers

RefSeq Summary

This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript varian...

Pfam Domains

Neur_chan_LBDaa 44–253UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 260–405UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

glycine receptor alpha 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006529.4

p.V340L

c.1018G>C

Surrounding Variants

2 papers

NM_006529.4

p.V340L

c.1018G>T

2 papers

NM_006529.4

p.A335T

c.1003G>A

1 paper

NM_006529.4

p.W319_L325delFs

c.956_974del19

1 paper

NM_006529.4

p.W319fs

c.955_956fs

1 paper

NM_006529.4

p.Y312*

c.936T>G

1 paper

NM_006529.4

p.Y312*

c.936T>A

1 paper

NM_006529.4

p.V310I

c.928G>A

1 paper

NM_006529.4

p.K309_V310Splc

c.928-1G>A

1 paper

NM_006529.4

p.T358A

c.1072A>G

1 paper

NM_006529.4

p.K365*

c.1093A>T

1 paper

NM_006529.4

p.Y367F

c.1100A>T

1 paper

NM_006529.4

p.R368H

c.1103G>A