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.K127K

c.381G>A

Surrounding Variants

1 paper

NM_000812.4

p.K127N

c.381G>C

1 paper

NM_000812.4

p.K127N

c.381G>T

1 paper

NM_000812.4

p.S129P

c.385T>C

1 paper

NM_000812.4

p.S129*

c.386C>A

1 paper

NM_000812.4

p.S129*

c.386C>G

1 paper

NM_000812.4

p.L124L

c.372G>C

1 paper

NM_000812.4

p.T121T

c.363C>A

2 papers

NM_000812.4

p.D120N

c.358G>A

1 paper

NM_000812.4

p.K137_N138insFs

c.411_412insA

1 paper

NM_000812.4

p.K137E

c.409A>G

1 paper

NM_000812.4

p.W117*

c.351G>A

1 paper

NM_000812.4

p.W117C

c.351G>C