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

11 papers

NM_001371727.1

p.V316I

c.946G>A

Surrounding Variants

1 paper

NM_001371727.1

p.F315_V316insFs

c.945_946insT

1 paper

NM_001371727.1

p.V316fs

c.946_947fs

1 paper

NM_001371727.1

p.F317S

c.950T>C

1 paper

NM_001371727.1

p.V314V

c.942C>T

1 paper

NM_001371727.1

p.F317delins

c.950_951delinsCA

1 paper

NM_001371727.1

p.M318K

c.953T>A

2 papers

NM_001371727.1

p.A319V

c.956C>T

4 papers

NM_001371727.1

p.M310T

c.929T>C

1 paper

NM_001371727.1

p.E322K

c.964G>A

1 paper

NM_001371727.1

p.L309P

c.926T>C

2 papers

NM_001371727.1

p.Y323F

c.968A>T

1 paper

NM_001371727.1

p.A324P

c.970G>C