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.N289K

c.867C>G

Surrounding Variants

2 papers

NM_001371727.1

p.N289K

c.867C>A

1 paper

NM_001371727.1

p.T290I

c.869C>T

1 paper

NM_001371727.1

p.N289H

c.865A>C

8 papers

NM_001371727.1

p.I288S

c.863T>G

5 papers

NM_001371727.1

p.I288T

c.863T>C

2 papers

NM_001371727.1

p.I288V

c.862A>G

4 papers

NM_001371727.1

p.T287I

c.860C>T

2 papers

NM_001371727.1

p.T287K

c.860C>A

7 papers

NM_001371727.1

p.T287P

c.859A>C

9 papers

NM_001371727.1

p.R293W

c.877C>T

4 papers

NM_001371727.1

p.T286I

c.857C>T

2 papers

NM_001371727.1

p.T286N

c.857C>A