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.T280A

c.838A>G

Surrounding Variants

1 paper

NM_001371727.1

p.I279N

c.836T>A

2 papers

NM_001371727.1

p.T281S

c.841A>T

3 papers

NM_001371727.1

p.T281A

c.841A>G

1 paper

NM_001371727.1

p.T281I

c.842C>T

2 papers

NM_001371727.1

p.T281S

c.842C>G

2 papers

NM_001371727.1

p.V282F

c.844G>T

7 papers

NM_001371727.1

p.V282A

c.845T>C

2 papers

NM_001371727.1

p.L283I

c.847C>A

3 papers

NM_001371727.1

p.L283P

c.848T>C

1 paper

NM_001371727.1

p.L283L

c.849C>A

2 papers

NM_001371727.1

p.T284A

c.850A>G

8 papers

NM_001371727.1

p.T284K

c.851C>A