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

1 paper

NM_001371727.1

p.N349delFs

c.1047delG

Surrounding Variants

2 papers

NM_001371727.1

p.N350S

c.1049A>G

2 papers

NM_001371727.1

p.A348D

c.1043C>A

1 paper

NM_001371727.1

p.S347R

c.1041T>G

1 paper

NM_001371727.1

p.S347R

c.1041T>A

2 papers

NM_001371727.1

p.S347N

c.1040G>A

2 papers

NM_001371727.1

p.M353L

c.1057A>T

2 papers

NM_001371727.1

p.S347G

c.1039A>G

2 papers

NM_001371727.1

p.M353L

c.1057A>C

1 paper

NM_001371727.1

p.S347R

c.1039A>C

2 papers

NM_001371727.1

p.M353I

c.1059G>T

2 papers

NM_001371727.1

p.M353I

c.1059G>C

2 papers

NM_001371727.1

p.M353I

c.1059G>A