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

1 paper

NM_000809.4

p.S238*

c.713C>A

Surrounding Variants

1 paper

NM_000809.4

p.S238*

c.713C>G

1 paper

NM_000809.4

p.G241S

c.721G>A

2 papers

NM_000809.4

p.G241Splc

c.721+2T>G

1 paper

NM_000809.4

p.L226F

c.678G>T

1 paper

NM_000809.4

p.L226F

c.678G>C

1 paper

NM_000809.4

p.K216T

c.647A>C

1 paper

NM_000809.4

p.P215L

c.644C>T

1 paper

NM_000809.4

p.V212I

c.634G>A

1 paper

NM_000809.4

p.W204C

c.612G>T

1 paper

NM_000809.4

p.W204C

c.612G>C

1 paper

NM_000809.4

p.W204S

c.611G>C

1 paper

NM_000809.4

p.G241Splc

c.721+849C>A