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.L284R

c.851T>G

Surrounding Variants

2 papers

NM_000812.4

p.T285K

c.854C>A

1 paper

NM_000812.4

p.M286_T287delins

c.858_859delinsTT

1 paper

NM_000812.4

p.T287P

c.859A>C

8 papers

NM_000812.4

p.T287I

c.860C>T

3 papers

NM_000812.4

p.T281A

c.841A>G

1 paper

NM_000812.4

p.T281S

c.841A>T

1 paper

NM_000812.4

p.Y302C

c.905A>G

1 paper

NM_000812.4

p.F318Y

c.953T>A

2 papers

NM_000812.4

p.Y324Y

c.972T>C

1 paper

NM_000812.4

p.A325T

c.973G>A

2 papers

NM_000812.4

p.N328D

c.982A>G

1 paper

NM_000812.4

p.K339N

c.1017G>C