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

9 papers

NM_001371727.1

p.D125N

c.373G>A

Surrounding Variants

1 paper

NM_001371727.1

p.D125H

c.373G>C

2 papers

NM_001371727.1

p.D125G

c.374A>G

2 papers

NM_001371727.1

p.N124S

c.371A>G

1 paper

NM_001371727.1

p.N124Y

c.370A>T

2 papers

NM_001371727.1

p.K127E

c.379A>G

2 papers

NM_001371727.1

p.K127R

c.380A>G

1 paper

NM_001371727.1

p.F122Y

c.365T>A

2 papers

NM_001371727.1

p.F129I

c.385T>A

1 paper

NM_001371727.1

p.T120fs

c.358_359fs

2 papers

NM_001371727.1

p.G132R

c.394G>C

2 papers

NM_001371727.1

p.G132R

c.394G>A

2 papers

NM_001371727.1

p.V133M

c.397G>A