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

7 papers

NM_001371727.1

p.I246T

c.737T>C

Surrounding Variants

5 papers

NM_001371727.1

p.F245L

c.735T>G

5 papers

NM_001371727.1

p.F245L

c.735T>A

3 papers

NM_001371727.1

p.F245C

c.734T>G

1 paper

NM_001371727.1

p.L247R

c.740T>G

3 papers

NM_001371727.1

p.F245S

c.734T>C

2 papers

NM_001371727.1

p.L247P

c.740T>C

5 papers

NM_001371727.1

p.F245L

c.733T>C

1 paper

NM_001371727.1

p.Q248K

c.742C>A

6 papers

NM_001371727.1

p.Y244H

c.730T>C

3 papers

NM_001371727.1

p.T249A

c.745A>G

2 papers

NM_001371727.1

p.T249R

c.746C>G

2 papers

NM_001371727.1

p.G243S

c.727G>A