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.V100V

c.300A>T

Surrounding Variants

2 papers

NM_001371727.1

p.I101V

c.301A>G

2 papers

NM_001371727.1

p.I101I

c.303A>T

2 papers

NM_001371727.1

p.P102S

c.304C>T

1 paper

NM_001371727.1

p.S97T

c.289T>A

2 papers

NM_001371727.1

p.D108Y

c.322G>T

2 papers

NM_001371727.1

p.R92K

c.275G>A

3 papers

NM_001371727.1

p.N109K

c.327C>G

3 papers

NM_001371727.1

p.N109K

c.327C>A

2 papers

NM_001371727.1

p.A90G

c.269C>G

1 paper

NM_001371727.1

p.R110_V111delFs

c.330_331delCT

2 papers

NM_001371727.1

p.A112V

c.335C>T

2 papers

NM_001371727.1

p.A112E

c.335C>A