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

22 papers

NM_001127644.2

p.D219N

c.655G>A

Surrounding Variants

5 papers

NM_001127644.2

p.Y218S

c.653A>C

5 papers

NM_001127644.2

p.L220F

c.658C>T

1 paper

NM_001127644.2

p.Q217insFs

c.650_651insC

5 papers

NM_001127644.2

p.Q217K

c.649C>A

2 papers

NM_001127644.2

p.Q217*

c.649C>T

2 papers

NM_001127644.2

p.L221P

c.662T>C

1 paper

NM_001127644.2

p.Q217insFs

c.649_650insC

4 papers

NM_001127644.2

p.N216I

c.647A>T

1 paper

NM_001127644.2

p.Q217delFs

c.649delC

1 paper

NM_001127644.2

p.G222fs

c.664_665fs

5 papers

NM_001127644.2

p.L215P

c.644T>C

4 papers

NM_001127644.2

p.L215I

c.643C>A