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.G332G

c.996G>A

Surrounding Variants

1 paper

NM_001371727.1

p.G332W

c.994G>T

2 papers

NM_001371727.1

p.R333T

c.998G>C

3 papers

NM_001371727.1

p.F331del1

c.991_992delAAA

1 paper

NM_001371727.1

p.F330_F331del2

c.988_992del6

4 papers

NM_001371727.1

p.F330_F331del1

c.990_992delAAG

7 papers

NM_001371727.1

p.F331S

c.992T>C

1 paper

NM_001371727.1

p.F331V

c.991T>G

2 papers

NM_001371727.1

p.F331I

c.991T>A

2 papers

NM_001371727.1

p.I329N

c.986T>A

2 papers

NM_001371727.1

p.Q336H

c.1008A>T

2 papers

NM_001371727.1

p.Q336H

c.1008A>C

3 papers

NM_001371727.1

p.R337C

c.1009C>T