Varaico: Literature-Extracted Genetic Variants

Gene:GLRA3
Variant:p.S274L

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.S274L
c.821C>T
Surrounding Variants
2 papers
NM_006529.4
p.S274S
c.822A>G
1 paper
NM_006529.4
p.M260I
c.780G>T
1 paper
NM_006529.4
p.M260I
c.780G>C
1 paper
NM_006529.4
p.M260I
c.780G>A
1 paper
NM_006529.4
p.V293A
c.878T>C
1 paper
NM_006529.4
p.M253I
c.759G>T
1 paper
NM_006529.4
p.M253I
c.759G>C
1 paper
NM_006529.4
p.M253I
c.759G>A
1 paper
NM_006529.4
p.G302E
c.905G>A
1 paper
NM_006529.4
p.R246Q
c.737G>A
1 paper
NM_006529.4
p.R304Q
c.911G>A
1 paper
NM_006529.4
p.E206E
c.618G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."