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.P266L

c.797C>T

Surrounding Variants

1 paper

NM_000809.4

p.C267Y

c.800G>A

1 paper

NM_000809.4

p.I268F

c.802A>T

1 paper

NM_000809.4

p.T270K

c.809C>A

1 paper

NM_000809.4

p.G257R

c.769G>C

1 paper

NM_000809.4

p.S277*

c.830C>G

1 paper

NM_000809.4

p.S277*

c.830C>A

1 paper

NM_000809.4

p.V248I

c.742G>A

1 paper

NM_000809.4

p.P286P

c.858C>A

1 paper

NM_000809.4

p.G241S

c.721G>A

1 paper

NM_000809.4

p.G241Splc

c.722-1002T>A

1 paper

NM_000809.4

p.G241Splc

c.722-1145T>G

1 paper

NM_000809.4

p.G241Splc

c.722-1451C>A