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

25 papers

NM_001127644.2

p.F325delFs

c.975delC

Surrounding Variants

7 papers

NM_001127644.2

p.F325L

c.975C>A

7 papers

NM_001127644.2

p.F325L

c.975C>G

7 papers

NM_001127644.2

p.F325L

c.973T>C

2 papers

NM_001127644.2

p.S326fs

c.976_977fs

2 papers

NM_001127644.2

p.S326fs

c.976_977fs

3 papers

NM_001127644.2

p.L328V

c.982C>G

79 papers

NM_001127644.2

p.A322D

c.965C>A

1 paper

NM_001127644.2

p.A322T

c.964G>A

5 papers

NM_001127644.2

p.Y321C

c.962A>G

1 paper

NM_001127644.2

p.I329N

c.986T>A

2 papers

NM_001127644.2

p.E330_F331del1

c.990_992delGTT

1 paper

NM_001127644.2

p.F331del1

c.991_992delTTT