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

1 paper

NM_001127644.2

p.M293L

c.877A>C

Surrounding Variants

1 paper

NM_001127644.2

p.M293L

c.877A>T

4 papers

NM_001127644.2

p.T292S

c.875C>G

12 papers

NM_001127644.2

p.T292I

c.875C>T

4 papers

NM_001127644.2

p.T292S

c.874A>T

1 paper

NM_001127644.2

p.T294K

c.881C>A

6 papers

NM_001127644.2

p.T294R

c.881C>G

5 papers

NM_001127644.2

p.T294I

c.881C>T

7 papers

NM_001127644.2

p.T295I

c.884C>T

5 papers

NM_001127644.2

p.V290M

c.868G>A

1 paper

NM_001127644.2

p.V290fs

c.868_869fs

1 paper

NM_001127644.2

p.L296S

c.887T>C

1 paper

NM_001127644.2

p.V290_L296delFs

c.869_888del20