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.D84H

c.250G>C

Surrounding Variants

2 papers

NM_001127644.2

p.H83Q

c.249T>A

2 papers

NM_001127644.2

p.H83R

c.248A>G

1 paper

NM_001127644.2

p.H83N

c.247C>A

1 paper

NM_001127644.2

p.H83Y

c.247C>T

1 paper

NM_001127644.2

p.M85I

c.255G>A

1 paper

NM_001127644.2

p.M85I

c.255G>C

1 paper

NM_001127644.2

p.M85I

c.255G>T

1 paper

NM_001127644.2

p.P79R

c.236C>G

3 papers

NM_001127644.2

p.P79T

c.235C>A

1 paper

NM_001127644.2

p.G78E

c.233G>A

5 papers

NM_001127644.2

p.G78R

c.232G>A

5 papers

NM_001127644.2

p.G78R

c.232G>C