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

8 papers

NM_001371727.1

p.L277S

c.830T>C

Surrounding Variants

1 paper

NM_001371727.1

p.G278Splc

c.832+1G>T

2 papers

NM_001371727.1

p.A272V

c.815C>T

2 papers

NM_001371727.1

p.A272G

c.815C>G

1 paper

NM_001371727.1

p.S271_A272delFs

c.813_814delCT

2 papers

NM_001371727.1

p.A272T

c.814G>A

2 papers

NM_001371727.1

p.S271P

c.811T>C

2 papers

NM_001371727.1

p.I266M

c.798T>G

1 paper

NM_001371727.1

p.W265*

c.795G>A

1 paper

NM_001371727.1

p.W265*

c.794G>A

1 paper

NM_001371727.1

p.S263F

c.788C>T

2 papers

NM_001371727.1

p.S263P

c.787T>C

4 papers

NM_001371727.1

p.V262F

c.784G>T