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

5 papers

NM_001127644.2

p.D345N

c.1033G>A

Surrounding Variants

1 paper

NM_001127644.2

p.G346_K347insFs

c.1036_1040dup5

5 papers

NM_001127644.2

p.W344G

c.1030T>G

1 paper

NM_001127644.2

p.S348T

c.1043G>C

4 papers

NM_001127644.2

p.V349M

c.1045G>A

4 papers

NM_001127644.2

p.R340S

c.1020A>C

4 papers

NM_001127644.2

p.R340S

c.1020A>T

5 papers

NM_001127644.2

p.R340G

c.1018A>G

1 paper

NM_001127644.2

p.K339N

c.1017G>C

1 paper

NM_001127644.2

p.K339N

c.1017G>T

1 paper

NM_001127644.2

p.K339insFs

c.1016_1017insT

5 papers

NM_001127644.2

p.K339E

c.1015A>G

1 paper

NM_001127644.2

p.P351T

c.1051C>A