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

1 paper

NM_001371727.1

p.K340E

c.1018A>G

Surrounding Variants

1 paper

NM_001371727.1

p.K339E

c.1015A>G

4 papers

NM_001371727.1

p.R337H

c.1010G>A

3 papers

NM_001371727.1

p.R337C

c.1009C>T

2 papers

NM_001371727.1

p.Q336H

c.1008A>T

2 papers

NM_001371727.1

p.Q336H

c.1008A>C

2 papers

NM_001371727.1

p.R333T

c.998G>C

2 papers

NM_001371727.1

p.S347G

c.1039A>G

1 paper

NM_001371727.1

p.S347R

c.1039A>C

2 papers

NM_001371727.1

p.S347N

c.1040G>A

1 paper

NM_001371727.1

p.G332G

c.996G>A

1 paper

NM_001371727.1

p.S347R

c.1041T>G

1 paper

NM_001371727.1

p.S347R

c.1041T>A