Varaico: Literature-Extracted Genetic Variants

GABRA4

76 papers

RefSeq Summary

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of thes...

Pfam Domains

Neur_chan_LBDaa 48–256UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 263–538UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha4

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000809.4

p.S516R

c.1548T>G

Surrounding Variants

2 papers

NM_000809.4

p.S516R

c.1548T>A

2 papers

NM_000809.4

p.S516R

c.1546A>C

1 paper

NM_000809.4

p.A507A

c.1521T>C

1 paper

NM_000809.4

p.F530S

c.1589T>C

3 papers

NM_000809.4

p.R466Q

c.1397G>A

1 paper

NM_000809.4

p.R466G

c.1396C>G

1 paper

NM_000809.4

p.M464T

c.1391T>C

2 papers

NM_000809.4

p.R460Q

c.1379G>A

1 paper

NM_000809.4

p.I445V

c.1333A>G

1 paper

NM_000809.4

p.A439T

c.1315G>A

1 paper

NM_000809.4

p.S420F

c.1259C>T

1 paper

NM_000809.4

p.S414F

c.1241C>T