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.I262insFs

c.785_786dupTA

Surrounding Variants

5 papers

NM_001127644.2

p.C261R

c.781T>C

1 paper

NM_001127644.2

p.I262_M263delins

c.786_787delinsTG

5 papers

NM_001127644.2

p.M263L

c.787A>C

7 papers

NM_001127644.2

p.M263V

c.787A>G

5 papers

NM_001127644.2

p.M263L

c.787A>T

12 papers

NM_001127644.2

p.P260L

c.779C>T

4 papers

NM_001127644.2

p.P260S

c.778C>T

5 papers

NM_001127644.2

p.M263K

c.788T>A

11 papers

NM_001127644.2

p.M263T

c.788T>C

11 papers

NM_001127644.2

p.M263I

c.789G>A

11 papers

NM_001127644.2

p.M263I

c.789G>C

11 papers

NM_001127644.2

p.M263I

c.789G>T