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

1–12 of 613 variants

13 papers

NM_001371727.1

p.M79T

c.236T>C

11 papers

NM_001371727.1

p.V316I

c.946G>A

9 papers

NM_001371727.1

p.D125N

c.373G>A

9 papers

NM_001371727.1

p.R293W

c.877C>T

9 papers

NM_001371727.1

p.K303R

c.908A>G

9 papers

NM_001371727.1

p.K303N

c.909G>T

9 papers

NM_001371727.1

p.K303N

c.909G>C

8 papers

NM_001371727.1

p.L277S

c.830T>C

8 papers

NM_001371727.1

p.T284K

c.851C>A

8 papers

NM_001371727.1

p.I288S

c.863T>G

7 papers

NM_001371727.1

p.I246T

c.737T>C

7 papers

NM_001371727.1

p.P252A

c.754C>G