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

1 paper

NM_000812.4

p.G47R

c.139G>A

Surrounding Variants

1 paper

NM_000812.4

p.G47R

c.139G>C

1 paper

NM_000812.4

p.Y48fs

c.142_143fs

1 paper

NM_000812.4

p.D42E

c.126C>G

1 paper

NM_000812.4

p.L52insFs

c.155dupT

1 paper

NM_000812.4

p.R53W

c.157C>T

1 paper

NM_000812.4

p.T40A

c.118A>G

1 paper

NM_000812.4

p.F56F

c.168C>T

1 paper

NM_000812.4

p.G57E

c.170G>A

1 paper

NM_000812.4

p.Y36F

c.107A>T

1 paper

NM_000812.4

p.G58Splc

c.172+45C>G

1 paper

NM_000812.4

p.S9G

c.25A>G

1 paper

NM_000812.4

p.R7Q

c.20G>A