Varaico: Literature-Extracted Genetic Variants

GABRB1

110 papers

RefSeq Summary

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A rece...

Pfam Domains

Neur_chan_LBDaa 37–243UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 250–469UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit beta1

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, beta 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000812.4

p.V63A

c.188T>C

Surrounding Variants

1 paper

NM_000812.4

p.P60T

c.178C>A

2 papers

NM_000812.4

p.P59fs

c.175_176fs

1 paper

NM_000812.4

p.D68N

c.202G>A

1 paper

NM_000812.4

p.S71N

c.212G>A

1 paper

NM_000812.4

p.I72M

c.216A>G

1 paper

NM_000812.4

p.E77K

c.229G>A

2 papers

NM_000812.4

p.N79S

c.236A>G

1 paper

NM_000812.4

p.M80_D81Splc

c.240+2T>C

1 paper

NM_000812.4

p.G58Splc

c.172+45C>G

1 paper

NM_000812.4

p.G57E

c.170G>A

1 paper

NM_000812.4

p.F56F

c.168C>T

1 paper

NM_000812.4

p.R53W

c.157C>T