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.M139I

c.417G>A

Surrounding Variants

1 paper

NM_001127644.2

p.M139I

c.417G>C

1 paper

NM_001127644.2

p.M139I

c.417G>T

2 papers

NM_001127644.2

p.N138T

c.413A>C

1 paper

NM_001127644.2

p.M141V

c.421A>G

1 paper

NM_001127644.2

p.M141T

c.422T>C

4 papers

NM_001127644.2

p.M141R

c.422T>G

6 papers

NM_001127644.2

p.A136S

c.406G>T

5 papers

NM_001127644.2

p.K144E

c.430A>G

1 paper

NM_001127644.2

p.K144N

c.432A>C

1 paper

NM_001127644.2

p.S134S

c.402A>T

1 paper

NM_001127644.2

p.K144N

c.432A>T

4 papers

NM_001127644.2

p.L146M

c.436C>A