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.L259F

c.775C>T

Surrounding Variants

2 papers

NM_001371727.1

p.T257I

c.770C>T

4 papers

NM_001371727.1

p.V262F

c.784G>T

2 papers

NM_001371727.1

p.S263P

c.787T>C

3 papers

NM_001371727.1

p.L255V

c.763C>G

1 paper

NM_001371727.1

p.S263F

c.788C>T

1 paper

NM_001371727.1

p.S253C

c.758C>G

1 paper

NM_001371727.1

p.W265*

c.794G>A

1 paper

NM_001371727.1

p.W265*

c.795G>A

5 papers

NM_001371727.1

p.P252L

c.755C>T

2 papers

NM_001371727.1

p.P252S

c.754C>T

7 papers

NM_001371727.1

p.P252A

c.754C>G

4 papers

NM_001371727.1

p.P252T

c.754C>A