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.I66T

c.197T>C

Surrounding Variants

2 papers

NM_001371727.1

p.I66V

c.196A>G

2 papers

NM_001371727.1

p.M64V

c.190A>G

2 papers

NM_001371727.1

p.A69T

c.205G>A

1 paper

NM_001371727.1

p.A61S

c.181G>T

1 paper

NM_001371727.1

p.D72H

c.214G>C

2 papers

NM_001371727.1

p.P59fs

c.175_176fs

1 paper

NM_001371727.1

p.P59L

c.176C>T

2 papers

NM_001371727.1

p.P59S

c.175C>T

2 papers

NM_001371727.1

p.V74I

c.220G>A

1 paper

NM_001371727.1

p.P58L

c.173C>T

1 paper

NM_001371727.1

p.P58S

c.172C>T

2 papers

NM_001371727.1

p.P58A

c.172C>G