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.F104L

c.312T>G

Surrounding Variants

5 papers

NM_001127644.2

p.F104L

c.312T>A

2 papers

NM_001127644.2

p.F104Y

c.311T>A

4 papers

NM_001127644.2

p.F104C

c.311T>G

5 papers

NM_001127644.2

p.F104L

c.310T>C

5 papers

NM_001127644.2

p.K103I

c.308A>T

1 paper

NM_001127644.2

p.L102F

c.306A>T

1 paper

NM_001127644.2

p.G106G

c.318A>T

1 paper

NM_001127644.2

p.R101S

c.303G>C

1 paper

NM_001127644.2

p.R101S

c.303G>T

4 papers

NM_001127644.2

p.M108V

c.322A>G

1 paper

NM_001127644.2

p.M108L

c.322A>T

2 papers

NM_001127644.2

p.E100D

c.300A>T