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

1–12 of 124 variants

10 papers

NM_000812.4

p.F246S

c.737T>C

8 papers

NM_000812.4

p.T287I

c.860C>T

4 papers

NM_000812.4

p.I247T

c.740T>C

3 papers

NM_000812.4

p.T281A

c.841A>G

2 papers

NM_000812.4

p.P59fs

c.175_176fs

2 papers

NM_000812.4

p.V63A

c.188T>C

2 papers

NM_000812.4

p.N79S

c.236A>G

2 papers

NM_000812.4

p.N110D

c.328A>G

2 papers

NM_000812.4

p.D120N

c.358G>A

2 papers

NM_000812.4

p.R154*

c.460C>T

2 papers

NM_000812.4

p.L177M

c.529C>A

2 papers

NM_000812.4

p.V219G

c.656T>G