Varaico: Literature-Extracted Genetic Variants

GABRB1

110 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 37–243UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 250–469UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit beta1

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, beta 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000812.4

p.N242S

c.725A>G

Surrounding Variants

1 paper

NM_000812.4

p.L239L

c.715C>T

1 paper

NM_000812.4

p.R238H

c.713G>A

10 papers

NM_000812.4

p.F246S

c.737T>C

1 paper

NM_000812.4

p.F246C

c.737T>G

2 papers

NM_000812.4

p.R238C

c.712C>T

4 papers

NM_000812.4

p.I247T

c.740T>C

2 papers

NM_000812.4

p.R232*

c.694C>T

2 papers

NM_000812.4

p.P253S

c.757C>T

2 papers

NM_000812.4

p.A229V

c.686C>T

1 paper

NM_000812.4

p.I259V

c.775A>G

1 paper

NM_000812.4

p.W266*

c.797G>A

1 paper

NM_000812.4

p.W266*

c.798G>A