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.K339insFs

c.1016_1017insT

Surrounding Variants

5 papers

NM_001127644.2

p.K339E

c.1015A>G

1 paper

NM_001127644.2

p.K339N

c.1017G>C

1 paper

NM_001127644.2

p.K339N

c.1017G>T

5 papers

NM_001127644.2

p.R340G

c.1018A>G

4 papers

NM_001127644.2

p.R340S

c.1020A>C

4 papers

NM_001127644.2

p.R340S

c.1020A>T

1 paper

NM_001127644.2

p.N335K

c.1005C>G

6 papers

NM_001127644.2

p.N335I

c.1004A>T

2 papers

NM_001127644.2

p.N335H

c.1003A>C

5 papers

NM_001127644.2

p.W344G

c.1030T>G

1 paper

NM_001127644.2

p.V334fs

c.1000_1001fs

5 papers

NM_001127644.2

p.D345N

c.1033G>A