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

1–12 of 80 variants

10 papers

NM_000809.4

p.L26M

c.76C>A

3 papers

NM_000809.4

p.A19T

c.55G>A

3 papers

NM_000809.4

p.T300I

c.899C>T

3 papers

NM_000809.4

p.R466Q

c.1397G>A

2 papers

NM_000809.4

p.G241Splc

c.721+2T>G

2 papers

NM_000809.4

p.P266L

c.797C>T

2 papers

NM_000809.4

p.F343L

c.1027T>C

2 papers

NM_000809.4

p.F343L

c.1029C>G

2 papers

NM_000809.4

p.F343L

c.1029C>A

2 papers

NM_000809.4

p.H372P

c.1115A>C

2 papers

NM_000809.4

p.R460Q

c.1379G>A

2 papers

NM_000809.4

p.S516R

c.1546A>C