Varaico: Literature-Extracted Genetic Variants

Gene:GLRA2
Variant:p.V6L

GLRA2

83 papers

RefSeq Summary

The glycine receptor consists of two subunits, alpha and beta, and acts as a pentamer. The protein encoded by this gene is an alpha subunit and can bind strychnine. Several transcript variants encodin...

Pfam Domains

Neur_chan_LBDaa 45–254UCSCNeurotransmitter-gated ion-channel ligand binding domain
Neur_chan_membaa 261–371UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

glycine receptor alpha 2

HGNC Previous Symbol

GLR

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_002063.4
p.V6L
c.16G>T
Surrounding Variants
7 papers
NM_002063.4
p.V6L
c.16G>C
1 paper
NM_002063.4
p.I8delFs
c.23delT
3 papers
NM_002063.4
p.M1T
c.2T>C
1 paper
NM_002063.4
p.M1V
c.1A>G
1 paper
NM_002063.4
p.A11D
c.32C>A
1 paper
NM_002063.4
p.N20I
c.59A>T
1 paper
NM_002063.4
p.S34A
c.100T>G
3 papers
NM_002063.4
p.F47S
c.140T>C
1 paper
NM_002063.4
p.D49H
c.145G>C
1 paper
NM_002063.4
p.T55delFs
c.163_164delAC
1 paper
NM_002063.4
p.T55fs
c.163_164fs
1 paper
NM_002063.4
p.G57E
c.170G>A
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