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

3 papers

NM_001371727.1

p.W116C

c.348G>C

Surrounding Variants

3 papers

NM_001371727.1

p.W116C

c.348G>T

1 paper

NM_001371727.1

p.D113fs

c.337_338fs

1 paper

NM_001371727.1

p.T120fs

c.358_359fs

2 papers

NM_001371727.1

p.A112V

c.335C>T

2 papers

NM_001371727.1

p.A112E

c.335C>A

1 paper

NM_001371727.1

p.R110_V111delFs

c.330_331delCT

1 paper

NM_001371727.1

p.F122Y

c.365T>A

3 papers

NM_001371727.1

p.N109K

c.327C>G

3 papers

NM_001371727.1

p.N109K

c.327C>A

1 paper

NM_001371727.1

p.N124Y

c.370A>T

2 papers

NM_001371727.1

p.N124S

c.371A>G

1 paper

NM_001371727.1

p.D125H

c.373G>C