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

15 papers

NM_001127644.2

p.G251S

c.751G>A

Surrounding Variants

1 paper

NM_001127644.2

p.G251_Y252del1

c.752_754delGCT

10 papers

NM_001127644.2

p.G251D

c.752G>A

1 paper

NM_001127644.2

p.Y252H

c.754T>C

4 papers

NM_001127644.2

p.Y252C

c.755A>G

1 paper

NM_001127644.2

p.Y252*

c.756C>A

1 paper

NM_001127644.2

p.Y252*

c.756C>G

5 papers

NM_001127644.2

p.I255F

c.763A>T

1 paper

NM_001127644.2

p.L246S

c.737T>C

2 papers

NM_001127644.2

p.F244L

c.732C>A

2 papers

NM_001127644.2

p.F244L

c.732C>G

2 papers

NM_001127644.2

p.T257R

c.770C>G

5 papers

NM_001127644.2

p.T257I

c.770C>T