Varaico: Literature-Extracted Genetic Variants

GABRB2

172 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 36–242UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 249–507UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit beta2

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, beta 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001371727.1

p.R141C

c.421C>T

Surrounding Variants

3 papers

NM_001371727.1

p.R141H

c.422G>A

1 paper

NM_001371727.1

p.L142V

c.424C>G

2 papers

NM_001371727.1

p.M139I

c.417G>T

2 papers

NM_001371727.1

p.M139I

c.417G>C

2 papers

NM_001371727.1

p.M139I

c.417G>A

2 papers

NM_001371727.1

p.H143R

c.428A>G

2 papers

NM_001371727.1

p.R138H

c.413G>A

2 papers

NM_001371727.1

p.P144T

c.430C>A

1 paper

NM_001371727.1

p.N137D

c.409A>G

1 paper

NM_001371727.1

p.V148F

c.442G>T

2 papers

NM_001371727.1

p.V148I

c.442G>A

2 papers

NM_001371727.1

p.V133M

c.397G>A