Varaico: Literature-Extracted Genetic Variants

GABRA1

331 papers

RefSeq Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride cha...

Pfam Domains

Neur_chan_LBDaa 42–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–366UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 342–439UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha1

HGNC Alias Symbol

EJM5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001127644.2

p.E201G

c.602A>G

Surrounding Variants

2 papers

NM_001127644.2

p.P202S

c.604C>T

1 paper

NM_001127644.2

p.A203_V206delFs

c.607_616del10

1 paper

NM_001127644.2

p.A203T

c.607G>A

1 paper

NM_001127644.2

p.T199A

c.595A>G

2 papers

NM_001127644.2

p.R204C

c.610C>T

1 paper

NM_001127644.2

p.W198*

c.594G>A

6 papers

NM_001127644.2

p.R204H

c.611G>A

1 paper

NM_001127644.2

p.W198*

c.593G>A

1 paper

NM_001127644.2

p.W198_T199insFs

c.594_597dup4

1 paper

NM_001127644.2

p.E197K

c.589G>A

1 paper

NM_001127644.2

p.Y196Y

c.588T>C

1 paper

NM_001127644.2

p.Y196C

c.587A>G