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.A332T

c.994G>A

Surrounding Variants

2 papers

NM_001127644.2

p.A332D

c.995C>A

10 papers

NM_001127644.2

p.A332V

c.995C>T

4 papers

NM_001127644.2

p.F331S

c.992T>C

5 papers

NM_001127644.2

p.F331I

c.991T>A

5 papers

NM_001127644.2

p.T333I

c.998C>T

1 paper

NM_001127644.2

p.F331del1

c.991_992delTTT

2 papers

NM_001127644.2

p.E330_F331del1

c.990_992delGTT

1 paper

NM_001127644.2

p.V334fs

c.1000_1001fs

1 paper

NM_001127644.2

p.I329N

c.986T>A

2 papers

NM_001127644.2

p.N335H

c.1003A>C

6 papers

NM_001127644.2

p.N335I

c.1004A>T

1 paper

NM_001127644.2

p.N335K

c.1005C>G