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

5 papers

NM_001371727.1

p.I299S

c.896T>G

Surrounding Variants

2 papers

NM_001371727.1

p.I299F

c.895A>T

5 papers

NM_001371727.1

p.I299V

c.895A>G

3 papers

NM_001371727.1

p.I299L

c.895A>C

4 papers

NM_001371727.1

p.P300L

c.899C>T

1 paper

NM_001371727.1

p.K298T

c.893A>C

3 papers

NM_001371727.1

p.K298E

c.892A>G

2 papers

NM_001371727.1

p.Y301H

c.901T>C

1 paper

NM_001371727.1

p.P297P

c.891T>C

3 papers

NM_001371727.1

p.Y301F

c.902A>T

7 papers

NM_001371727.1

p.Y301C

c.902A>G

1 paper

NM_001371727.1

p.V302L

c.904G>T

1 paper

NM_001371727.1

p.V302L

c.904G>C