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

9 papers

NM_001371727.1

p.K303R

c.908A>G

Surrounding Variants

2 papers

NM_001371727.1

p.K303T

c.908A>C

9 papers

NM_001371727.1

p.K303N

c.909G>T

9 papers

NM_001371727.1

p.K303N

c.909G>C

2 papers

NM_001371727.1

p.K303E

c.907A>G

4 papers

NM_001371727.1

p.A304T

c.910G>A

7 papers

NM_001371727.1

p.A304V

c.911C>T

1 paper

NM_001371727.1

p.V302L

c.904G>T

1 paper

NM_001371727.1

p.V302L

c.904G>C

7 papers

NM_001371727.1

p.V302M

c.904G>A

2 papers

NM_001371727.1

p.I305T

c.914T>C

3 papers

NM_001371727.1

p.Y301F

c.902A>T

7 papers

NM_001371727.1

p.Y301C

c.902A>G